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Blaine T Bettinger

MINOR ALLELE PROGRAM REPORT
===========================

Blaine Bettinger 'bb' '56' User ID 125'      23and Me Results   Chromosomes 1-22, X       Revised 5 April 2013


The program identifies about 70 'rare/uncommon' SNPs from the 900,000+ tested by 23andMe.


The are 3 homozygous-recessive results - which suggests a slight consanguinity in the pedigree.

They are:

'AA'	rs13232752	Intergenic							-
'CC'	rs2231939	ATP5SL  ATP5S-like						- missense H23R
'GG'	rs1135821	CYP2D6  cytochrome P450, family 2, subfamily D, polypeptide 6	- synonymous G111G

The Intergenic and synonymous results are considered insignificant.

However, the mutation in the gene ATP5SL could be significant  - but is not mentioned in the literature.


There are no other SNPs of special note.


The ancestry is European.

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23andMe mtDNA Haplogroup A2 
  
64T    73G    146C   153G   235G   263G   663G   750G   1438G  1736G 
2706G  4248C  4769G  4824G  7028T  8027A  8572A  8794T  8860G  11016A 
11719A 12007A 12366G 12705T 13681G 14693G 14766T 15326G 16223T 16290T 
16319A 16362C 

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RESULTS
=======
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rs1057624	 at Chr1:11768857	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00959.
rs527787	 at Chr1:48337155	 gave 'GT'  The minor allele is 'T' with a MAF = 0.00959.
rs212987	 at Chr1:48462179	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00914
rs17394875	 at Chr1:64734756	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00959
rs16827032	 at Chr1:144278441	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00822
rs1284304	 at Chr1:144413854	 gave 'AC'  The minor allele is 'A' with a MAF = 0.00365.
rs11465206	 at Chr1:153427180	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00639.
rs17612648	 at Chr1:196932540	 gave 'CG'  The minor allele is 'G' with a MAF = 0.00594
rs35469947	 at Chr1:227506093	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00959
rs12142450	 at Chr1:227853653	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00274

rs45442092	 at Chr2:31448634	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00319.
rs56219475	 at Chr2:39094611	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00548
rs7609388	 at Chr2:83405266	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00868
rs6577014	 at Chr2:95440136	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00639
rs12619170	 at Chr2:97554862	 gave 'AC'  The minor allele is 'C' with a MAF = 0.00411

rs3814399	 at Chr3:114474182	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00411
rs13067518	 at Chr3:122354312	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00822

rs11936089	 at Chr4:17620962	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00000
rs10516518	 at Chr4:106454461	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00959.

rs17613128	 at Chr5:16622071	 gave 'GT'  The minor allele is 'T' with a MAF = 0.00502.
rs28363488	 at Chr5:138294063	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00319

rs1041926	 at Chr6:28534275	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00685
rs17318151	 at Chr6:157192188	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00868
rs36103319	 at Chr6:160473397	 gave 'GT'  The minor allele is 'T' with a MAF = 0.00000
rs34130495	 at Chr6:160480814	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00731
rs4252188	 at Chr6:161058746	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00685

rs13232752	 at Chr7:15986115	 gave 'AA'  The minor allele is 'A' with a MAF = 0.00639
rs17290246	 at Chr7:55206435	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00457
rs13228098	 at Chr7:89694369	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00959
rs7794389	 at Chr7:92043294	 gave 'GT'  The minor allele is 'G' with a MAF = 0.00457
rs35303224	 at Chr7:98886340	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00548.
rs1015685	 at Chr7:106829298	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00950
rs12707242	 at Chr7:134913221	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00457
rs4726665	 at Chr7:143372543	 gave 'AC'  The minor allele is 'A' with a MAF = 0.00914

rs28359524	 at Chr8:18121134	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00731
rs1799931	 at Chr8:18302650	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00900
rs268		 at Chr8:19857809	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00400
rs2513812	 at Chr8:99116118	 gave 'GT'  The minor allele is 'G' with a MAF = 0.00776

rs10811464	 at Chr9:21066087	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00182
rs34552278	 at Chr9:33437553	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00548.
rs28683530	 at Chr9:44158052	 gave 'AC'  The minor allele is 'A' with a MAF = 0.00639
rs3176625	 at Chr9:99500529	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00594.

rs12242036	 at Chr10:134281704	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00914
rs12267464	 at Chr10:134405018	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00868

rs12293349	 at Chr11:227030	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00319
rs17470471	 at Chr11:16399032	 gave 'GT'  The minor allele is 'G' with a MAF = 0.00822
rs4647760	 at Chr11:47217127	 gave 'AC'  The minor allele is 'A' with a MAF = 0.00594
rs4252301	 at Chr11:117362413	 gave 'CG'  The minor allele is 'C' with a MAF = 0.00228

rs61688134	 at Chr12:21908677	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00594
rs7139140	 at Chr12:37747104	 gave 'AC'  The minor allele is 'A' with a MAF = 0.00502
rs58599399	 at Chr12:47975671	 gave 'GT'  The minor allele is 'T' with a MAF = 0.00045
rs12368829	 at Chr12:93326073	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00776
rs10850948	 at Chr12:116918294	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00822
rs11830522	 at Chr12:122860470	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00868
rs11836757	 at Chr12:128834763	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00914

rs2227122	 at Chr13:32514097	 gave 'GT'  The minor allele is 'T' with a MAF = 0.00502

rs41298432	 at Chr14:54439064	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00999

rs17215633	 at Chr15:43347066	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00502
rs28757061	 at Chr15:49419913	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00000.
rs13379935	 at Chr15:59874969	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00868

rs11646402	 at Chr16:53760774	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00959

rs2243110	 at Chr17:4779463	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00274
rs17806333	 at Chr17:18173243	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00868
rs8176320	 at Chr17:38449889	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00502.
rs12945560	 at Chr17:39236976	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00685
rs4988345	 at Chr17:57279354	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00319.

18-

rs2231939	 at Chr19:46636110	 gave 'CC'  The minor allele is 'C' with a MAF = 0.0018

rs11696330	 at Chr20:44293437	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00959

rs9976946	 at Chr21:35129932	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00639

rs9609052	 at Chr22:29419395	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00370
rs9607875	 at Chr22:40809213	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00411
rs28578778	 at Chr22:40853344	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00274
rs1135821	 at Chr22:40855703	 gave 'GG'  The minor allele is 'G' with a MAF = 0.00999
rs11090143	 at Chr22:41850049	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00776

x-

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MISSENSE SUMMARY
================
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rs16827032	 at Chr1:144278441	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00822
rs16827032	ANKRD35  ankyrin repeat domain 35						- missense N978D
('bb')		'AG' MAF = 0.00822 Possibly 6% in Africa and 1% in Europe.
		The change N<>D is fairly common, but the homozygous form could be significant.
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rs12142450	 at Chr1:227853653	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00274
rs12142450	URB2  URB2 ribosome biogenesis 2 homolog (S. cerevisiae)			- missense V1400M
('bb')		'AG' MAF = 0.00274 Possibly 1% in Europe and absent elsewhere.
		The change V<>M is common and unlikely to be significant.
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rs45442092	 at Chr2:31448634	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00319.
rs45442092	XDH  xanthine dehydrogenase							- missense R607Q
('bb')		'CT' MAF = 0.00319. The 1000 Genome Project gives 3 per 1000.
		The change R<>Q is uncommon and the homozygous form could be significant.
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rs56219475	 at Chr2:39094611	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00548
rs56219475	SOS1  son of sevenless homolog 1 (Drosophila)					- missense P655L
('ly')		'AG' MAF = 0.00548 Appears 1% worldwide.
		The change P<>L is fairly uncommon and the homozygous form could be significant.
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rs17318151	 at Chr6:157192188	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00868
rs17318151	ARID1B  AT rich interactive domain 1B (SWI1-like)				- missense I560V
('bb')		'AG' MAF = 0.00868 Appears 2% in Europe and absent elsewhere.
		The change I<>V is very common.
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rs36103319	 at Chr6:160473397	 gave 'GT'  The minor allele is 'T' with a MAF = 0.00000
rs36103319	SLC22A1  solute carrier family 22 (organic cation transporter)			- missense G220V
('bb')		'GT' MAF = 0.00000 Appears about 1 per 1000 worldwide.
		The change G<>V is uncommon and the homozygous form could be significant.
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rs34130495	 at Chr6:160480814	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00731
rs34130495	SLC22A1  solute carrier family 22 (organic cation transporter)			- missense G401S
('bb')		'AG' MAF = 0.00731 Appears about 3% worldwide.
		The change G<>S in uncommon and the homozygous form could be significant.
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rs13228098	 at Chr7:89694369	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00959
rs13228098	STEAP2  STEAP family member 2, metalloreductase					- missense G214E
('eb')		'AG' MAF = 0.00959 Maybe 8% in Europe.
		The change G<>E is rare and the homozygous form may be significant.
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rs1799931	 at Chr8:18302650	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00900
rs1799931 	NAT2  N-acetyltransferase 2 (arylamine N-acetyltransferase)			- missense G286E
('i','sm')	'AG' MAF = 0.00900 maybe 3% in Europe and lower elsewhere.
		The change G<>E is uncommon and the homozygous form could be significant.
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rs268		 at Chr8:19857809	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00400
rs268		LPL  lipoprotein lipase								- missense N318S
('bb')		'AG' MAF = 0.00400 Possibly 1-2% in Europe and absent elsewhere.
		The change N<>S is fairly common and is unlikely to be significant.
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rs61688134	 at Chr12:21908677	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00594
rs61688134	ABCC9  ATP-binding cassette, sub-family C (CFTR/MRP), member 9			- missense V734I
		'CT' MAF = 0.00594 Appears 1% worldwide.
		The change V<>I is very common and unlikely to be significant.
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rs58599399	 at Chr12:47975671	 gave 'GT'  The minor allele is 'T' with a MAF = 0.00045
rs58599399	PRPH  peripherin								- missense D141Y
('bb')		'GT' MAF = 0.00045 The 1000 Genome Project data gives 1 per 1000.
		The change D<>Y is rare and the homozygous form here could be significant.
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rs41298432	 at Chr14:54439064	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00999
rs41298432	GCH1  GTP cyclohydrolase 1							- missense P23L
('bn')		'AG' MAF = 0.00999 An uncommon SNP.
		The change P<>L is uncommon and the homozygous form could be significant.
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rs17215633	 at Chr15:43347066	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00502
rs17215633	SLC28A2  solute carrier family 28 (sodium-coupled nucleoside transporter)	- missense F355S
('bb')		'CT' MAF = 0.00502 Appears 2% worldwide.
		The change F<>S is common and unlikely to be significant.
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rs4988345	 at Chr17:57279354	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00319.
rs4988345	BRIP1  BRCA1 interacting protein C-terminal helicase 1				- missense R173C
('bb')		'AG' MAF = 0.00319. Possibly 2% in Europe and Asia, absent in Africa.
		The mutation R<>C is uncommon and the homozygous form could be significant.
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rs2231939	 at Chr19:46636110	 gave 'CC'  The minor allele is 'C' with a MAF = 0.0018
rs2231939	ATP5SL  ATP5S-like								- missense H23R
('be')		'CT' MAF = 0.00180 Appears nearly 2% in Europe.
('bb')		'CC' The homozygous form is clearly uncommon.
		The change H<>R is fairly common, and this SNP may not be significant.
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rs11090143	 at Chr22:41850049	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00776
rs11090143	BIK  BCL2-interacting killer (apoptosis-inducing)				- missense T26I
('bb')		'CT' MAF = 0.00776 Appears 2% in Europe & Asia and absent in Africa.
		The change T<>I is common and not likely to be significant.

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FULL SUMMARY
============
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rs1057624	 at Chr1:11768857	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00959.
rs1057624	MTHFR  methylenetetrahydrofolate reductase (NAD(P)H)				- UTR-3
('bb')		'CT' MAF = 0.00959. The 1000 Genome Project about 1%
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rs527787	 at Chr1:48337155	 gave 'GT'  The minor allele is 'T' with a MAF = 0.00959.
rs527787	Intergenic									-
('rz')		'GT' MAF = 0.00959. Maybe 8% in Europe.
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rs212987	 at Chr1:48462179	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00914
rs212987	SLC5A9  solute carrier family 5 (sodium/glucose cotransporter)			- intron
('rz')		'AG' MAF = 0.00914 Appears to be about 8% in Europe.
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rs17394875	 at Chr1:64734756	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00959
rs17394875	CACHD1  cache domain containing 1						- intron
('bb')		'CT' MAF = 0.00959 Appears 8% in Europe, absent elsewhere.
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rs16827032	 at Chr1:144278441	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00822
rs16827032	ANKRD35  ankyrin repeat domain 35						- missense N978D
('bb')		'AG' MAF = 0.00822 Possibly 6% in Africa and 1% in Europe.
		The change N<>D is fairly common, but the homozygous form could be significant.
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rs1284304	 at Chr1:144413854	 gave 'AC'  The minor allele is 'A' with a MAF = 0.00365.
rs1284304	CD160  CD160 molecule								- intron
('bb')		'AC' MAF = 0.00365. Possibly 4% in Africa and absent elsewhere.
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rs11465206	 at Chr1:153427180	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00639.
rs11465206	MUC1  mucin 1, cell surface associated						- intron
('bb')		'AG' MAF = 0.00639. The 1000 Genome Project gives 6 per 1000.
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rs17612648	 at Chr1:196932540	 gave 'CG'  The minor allele is 'G' with a MAF = 0.00594
rs17612648	PTPRC  protein tyrosine phosphatase, receptor type, C				- unknown
('bb')		'CG' MAF = 0.00594 About 3% in Europe and absent elsewhere.
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rs35469947	 at Chr1:227506093	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00959
rs35469947	RAB4A  RAB4A, member RAS oncogene family					- intron
('bb')		'AG' MAF = 0.00959 Appears 5% in Europe and less elsewhere.
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rs12142450	 at Chr1:227853653	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00274
rs12142450	URB2  URB2 ribosome biogenesis 2 homolog (S. cerevisiae)			- missense V1400M
('bb')		'AG' MAF = 0.00274 Possibly 1% in Europe and absent elsewhere.
		The change V<>M is common and unlikely to be significant.
----------------------------------------------------------------------------------------------------------------
rs45442092	 at Chr2:31448634	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00319.
rs45442092	XDH  xanthine dehydrogenase							- missense R607Q
('bb')		'CT' MAF = 0.00319. The 1000 Genome Project gives 3 per 1000.
		The change R<>Q is uncommon and the homozygous form could be significant.
----------------------------------------------------------------------------------------------------------------
rs56219475	 at Chr2:39094611	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00548
rs56219475	SOS1  son of sevenless homolog 1 (Drosophila)					- missense P655L
('ly')		'AG' MAF = 0.00548 Appears 1% worldwide.
		The change P<>L is fairly uncommon and the homozygous form could be significant.
----------------------------------------------------------------------------------------------------------------
rs7609388	 at Chr2:83405266	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00868
rs7609388	Intergenic									-
('bb')		'CT' MAF = 0.00868 Appears about 1% worldwide.
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rs6577014	 at Chr2:95440136	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00639
rs6577014	FAHD2A  fumarylacetoacetate hydrolase domain containing 2A			- intron
('bb')		'CT' MAF = 0.00639 Possibly 8% in Europe and absent elsewhere.
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rs12619170	 at Chr2:97554862	 gave 'AC'  The minor allele is 'C' with a MAF = 0.00411
rs12619170	ANKRD36B  ankyrin repeat domain 36B						- intron
('bb')		'AC' MAF = 0.00411 Appears 3% in Europe an absent elsewhere.
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rs3814399	 at Chr3:114474182	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00411
rs3814399	BOC  Boc homolog (mouse)							- synonymous A201A
('bb')		'CT' MAF = 0.00411 Appears 1% in Europe and up to 20% in Asia.
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rs13067518	 at Chr3:122354312	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00822
rs13067518	STXBP5L  syntaxin binding protein 5-like				- intron
('bb')		'CT' MAF = 0.00822 Appears 7% in Europe and absent elsewhere.
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rs11936089	 at Chr4:17620962	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00000
rs11936089	LCORL  ligand dependent nuclear receptor corepressor-like			- intron
('ss')		'CT' MAF = 0.00000 Appears rare in Europe & Asia. Possibly 3% in Africa
----------------------------------------------------------------------------------------------------------------
rs10516518	 at Chr4:106454461	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00959.
rs10516518	Intergenic									-
('k')		'CT' MAF = 0.00959. Up to 9% in Europe and Asia. Possibly absent in Africa.
('ig')		'TT'
----------------------------------------------------------------------------------------------------------------
rs17613128	 at Chr5:16622071	 gave 'GT'  The minor allele is 'T' with a MAF = 0.00502.
rs17613128	FAM134B  family with sequence similarity 134, member B				- intron
('mh','kr')	'GT' MAF = 0.00502. Maybe 3% in Europe and less elsewhere.
('ss','pi')	'TT'
----------------------------------------------------------------------------------------------------------------
rs28363488	 at Chr5:138294063	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00319
rs28363488	CTNNA1  catenin (cadherin-associated protein), alpha 1				- synonymous A671A
('bb')		'AG' MAF = 0.00319 Appears about 1% in Europe and absent elsewhere.
----------------------------------------------------------------------------------------------------------------
rs1041926	 at Chr6:28534275	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00685
rs1041926	Intergenic									-
('jk')		'AG' MAF = 0.00685 Appears 3% in Europe and absent elsewhere.
----------------------------------------------------------------------------------------------------------------
rs17318151	 at Chr6:157192188	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00868
rs17318151	ARID1B  AT rich interactive domain 1B (SWI1-like)				- missense I560V
('bb')		'AG' MAF = 0.00868 Appears 2% in Europe and absent elsewhere.
		The change I<>V is very common.
----------------------------------------------------------------------------------------------------------------
rs36103319	 at Chr6:160473397	 gave 'GT'  The minor allele is 'T' with a MAF = 0.00000
rs36103319	SLC22A1  solute carrier family 22 (organic cation transporter)			- missense G220V
('bb')		'GT' MAF = 0.00000 Appears about 1 per 1000 worldwide.
		The change G<>V is uncommon and the homozygous form could be significant.
----------------------------------------------------------------------------------------------------------------
rs34130495	 at Chr6:160480814	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00731
rs34130495	SLC22A1  solute carrier family 22 (organic cation transporter)			- missense G401S
('bb')		'AG' MAF = 0.00731 Appears about 3% worldwide.
		The change G<>S in uncommon and the homozygous form could be significant.
----------------------------------------------------------------------------------------------------------------
rs4252188	 at Chr6:161058746	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00685
rs4252188	PLG  plasminogen								- intron
('eb')		'AG' MAF = 0.00685 Poor population data.
----------------------------------------------------------------------------------------------------------------
rs13232752	 at Chr7:15986115	 gave 'AA'  The minor allele is 'A' with a MAF = 0.00639
rs13232752	Intergenic									-
('i')		'AG' MAF = 0.00639 Maybe 8% in Europe and absent elsewhere.
('bb')		'AA'
----------------------------------------------------------------------------------------------------------------
rs17290246	 at Chr7:55206435	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00457
rs17290246	EGFR  epidermal growth factor receptor						- intron
('bb')		'AG' MAF = 0.00457 Possibly 6% in Europe.
----------------------------------------------------------------------------------------------------------------
rs13228098	 at Chr7:89694369	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00959
rs13228098	STEAP2  STEAP family member 2, metalloreductase					- missense G214E
('eb')		'AG' MAF = 0.00959 Maybe 8% in Europe.
		The change G<>E is rare and the homozygous form may be significant.
----------------------------------------------------------------------------------------------------------------
rs7794389	 at Chr7:92043294	 gave 'GT'  The minor allele is 'G' with a MAF = 0.00457
rs7794389	FAM133B  family with sequence similarity 133, member B				- intron
('bb')		'GT' MAF = 0.00457 Possibly 8% in Europe and absent elsewhere.
----------------------------------------------------------------------------------------------------------------
rs35303224	 at Chr7:98886340	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00548.
rs35303224	CPSF4  cleavage and polyadenylation specific factor 4, 30kDa			- unknown
('ut')		'AG' MAF = 0.00548. Appears 2% worldwide.
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rs1015685	 at Chr7:106829298	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00950
rs1015685	COG5  component of oligomeric golgi complex 5					- intron
('bb')		'CT' MAF = 0.00950 Poor population data. Possibly 1% in Europe.
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rs12707242	 at Chr7:134913221	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00457
rs12707242	NUP205  nucleoporin 205kDa							- synonymous G262G
('bb')		'CT' MAF = 0.00457 Appears 1% in Europe and absent elsewhere.
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rs4726665	 at Chr7:143372543	 gave 'AC'  The minor allele is 'A' with a MAF = 0.00914
rs4726665	Intergenic									-
('bb')		'AC' MAF = 0.00914 Possibly 11% in Europe and much lower elsewhere.
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rs28359524	 at Chr8:18121134	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00731
rs28359524	NAT1  N-acetyltransferase 1 (arylamine N-acetyltransferase)			- intron
('bb')		'AG' MAF = 0.00731 Possibly 3% in Europe and lower elsewhere.
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rs1799931	 at Chr8:18302650	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00900
rs1799931 	NAT2  N-acetyltransferase 2 (arylamine N-acetyltransferase)			- missense G286E
('i','sm')	'AG' MAF = 0.00900 maybe 3% in Europe and lower elsewhere.
		The change G<>E is uncommon and the homozygous form could be significant.
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rs268		 at Chr8:19857809	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00400
rs268		LPL  lipoprotein lipase								- missense N318S
('bb')		'AG' MAF = 0.00400 Possibly 1-2% in Europe and absent elsewhere.
		The change N<>S is fairly common and is unlikely to be significant.
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rs2513812	 at Chr8:99116118	 gave 'GT'  The minor allele is 'G' with a MAF = 0.00776
rs2513812	MATN2  matrilin 2								- intron
('bb')		'GT' MAF = 0.00776 Possibly 6% in Europe and absent elsewhere.
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rs10811464	 at Chr9:21066087	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00182
rs10811464	Intergenic									-
('ut')		'AG' MAF = 0.00182 Appears 1% in Europe and absent elsewhere.
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rs34552278	 at Chr9:33437553	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00548.
rs34552278	AQP3  aquaporin 3 (Gill blood group)						- UTR-5
('bb')		'AG' MAF = 0.00548. Possibly 4% in Europe.
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rs28683530	 at Chr9:44158052	 gave 'AC'  The minor allele is 'A' with a MAF = 0.00639
rs28683530	Intergenic									-
('i')		'AC' MAF = 0.00639 Poor data. Appears 6 per 1000 worldwide.
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rs3176625	 at Chr9:99500529	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00594.
rs3176625	Intergenic									-
('bb')		'CT' MAF = 0.00594. Possibly 10% in Africa and absent elsewhere.
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rs12242036	 at Chr10:134281704	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00914
rs12242036	INPP5A  inositol polyphosphate-5-phosphatase, 40kDa				- intron
('bb')		'CT' MAF = 0.00914 Appears up to 11% in Africa, much lower elsewhere.
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rs12267464	 at Chr10:134405018	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00868
rs12267464	INPP5A  inositol polyphosphate-5-phosphatase					- intron
('bb')		'CT' MAF = 0.00868 Appears 10% in Africa, possibly absent elsewhere.
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rs12293349	 at Chr11:227030	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00319
rs12293349	PSMD13  proteasome (prosome, macropain) 26S subunit, non-ATPase			- UTR-5
('bb')		'CT' MAF = 0.00319 The 1000 Genome Project gives 3 per 1000.
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rs17470471	 at Chr11:16399032	 gave 'GT'  The minor allele is 'G' with a MAF = 0.00822
rs17470471	SOX6  SRY (sex determining region Y)-box 6					- intron
('ut')		'GT' Heterozygous MAF = 0.00822 About 2% in Europe
		'GG' Homozygous clearly rare.
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rs4647760	 at Chr11:47217127	 gave 'AC'  The minor allele is 'A' with a MAF = 0.00594
rs4647760	DDB2  damage-specific DNA binding protein 2					- UTR-3
('bb')		'AC' MAF = 0.00594 Possibly 4% in Europe and absent elsewhere.
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rs4252301	 at Chr11:117362413	 gave 'CG'  The minor allele is 'C' with a MAF = 0.00228
rs4252301	IL10RA  interleukin 10 receptor, alpha						- synonymous V7V
('bb')		'CG' MAF = 0.00228 Appears about 1% worldwide.
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rs61688134	 at Chr12:21908677	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00594
rs61688134	ABCC9  ATP-binding cassette, sub-family C (CFTR/MRP), member 9			- missense V734I
		'CT' MAF = 0.00594 Appears 1% worldwide.
		The change V<>I is very common and unlikely to be significant.
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rs7139140	 at Chr12:37747104	 gave 'AC'  The minor allele is 'A' with a MAF = 0.00502
rs7139140	Intergenic									-
('bb')		'AC' MAF = 0.00502 Possibly 5% in Europe and absent elsewhere.
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rs58599399	 at Chr12:47975671	 gave 'GT'  The minor allele is 'T' with a MAF = 0.00045
rs58599399	PRPH  peripherin								- missense D141Y
('bb')		'GT' MAF = 0.00045 The 1000 Genome Project data gives 1 per 1000.
		The change D<>Y is rare and the homozygous form here could be significant.
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rs12368829	 at Chr12:93326073	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00776
rs12368829	CCDC41  coiled-coil domain containing 41					- intron
('i')		'AG' MAF = 0.00776 Up to about 10% in Europe, and absent elsewhere. A European SNP.
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rs10850948	 at Chr12:116918294	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00822
rs10850948	Intergenic									-
('pc')		'CT' MAF = 0.00822 Possibly 1% in Europe and absent elsewhere.
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rs11830522	 at Chr12:122860470	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00868
rs11830522	DNAH10  dynein, axonemal, heavy chain 10					- intron
('bb')		'CT' MAF = 0.00868 The 1000 Genome Project gives 8 per 1000.
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rs11836757	 at Chr12:128834763	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00914
rs11836757	TMEM132D  transmembrane protein 132D						- intron
('bb')		'AG' MAF = 0.00914 Appears 11% in Africa and absent elsewhere.
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rs2227122	 at Chr13:32514097	 gave 'GT'  The minor allele is 'T' with a MAF = 0.00502
rs2227122	KL  klotho									- intron
('a')	 	'GT' MAF = 0.00502 Maybe 2% Europe, and absent elsewhere.
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rs41298432	 at Chr14:54439064	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00999
rs41298432	GCH1  GTP cyclohydrolase 1							- missense P23L
('bn')		'AG' MAF = 0.00999 An uncommon SNP.
		The change P<>L is uncommon and the homozygous form could be significant.
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rs17215633	 at Chr15:43347066	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00502
rs17215633	SLC28A2  solute carrier family 28 (sodium-coupled nucleoside transporter)	- missense F355S
('bb')		'CT' MAF = 0.00502 Appears 2% worldwide.
		The change F<>S is common and unlikely to be significant.
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rs28757061	 at Chr15:49419913	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00000.
rs28757061	CYP19A1  cytochrome P450, family 19, subfamily A, polypeptide 1			- nearGene-5
('bb')		'CT' MAF = 0.00000. Appears up to 8% in Africa and absent elsewhere.
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rs13379935	 at Chr15:59874969	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00868
rs13379935	Intergenic									-
('bb')		'CT' MAF = 0.00868 Possibly 8% in Europe and absent elsewhere.
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rs11646402	 at Chr16:53760774	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00959
rs11646402	Intergenic									- 
('jt','eb')	'AG' MAF = 0.00959 About 9% in Europe, absent elsewhere. A European SNP.
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rs2243110	 at Chr17:4779463	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00274
rs2243110	GP1BA  glycoprotein Ib (platelet), alpha polypeptide				- nearGene-3
('bb')		'AG' MAF = 0.00274 Appears absent in Europe, present in Africa and Asia.
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rs17806333	 at Chr17:18173243	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00868
rs17806333	SHMT1  serine hydroxymethyltransferase 1 (soluble)				- intron
('bb')		'CT' MAF = 0.00868 Possibly 4% in Europe and absent elsewhere.
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rs8176320	 at Chr17:38449889	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00502.
rs8176320	BRCA1  breast cancer 1, early onset						- UTR-3
('bb')		'CT' MAF = 0.00502. Possibly 3% in Europe.
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rs12945560	 at Chr17:39236976	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00685
rs12945560	MPP3  membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)		- intron
('c2-FTDNA)	'CT' MAF = 0.00685 Appears 9% in Europe and absent elsewhere.
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rs4988345	 at Chr17:57279354	 gave 'AG'  The minor allele is 'A' with a MAF = 0.00319.
rs4988345	BRIP1  BRCA1 interacting protein C-terminal helicase 1				- missense R173C
('bb')		'AG' MAF = 0.00319. Possibly 2% in Europe and Asia, absent in Africa.
		The mutation R<>C is uncommon and the homozygous form could be significant.
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rs2231939	 at Chr19:46636110	 gave 'CC'  The minor allele is 'C' with a MAF = 0.0018
rs2231939	ATP5SL  ATP5S-like								- missense H23R
('be')		'CT' MAF = 0.00180 Appears nearly 2% in Europe.
('bb')		'CC' The homozygous form is clearly uncommon.
		The change H<>R is fairly common, and this SNP may not be significant.
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rs11696330	 at Chr20:44293437	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00959
rs11696330	CDH22  cadherin 22, type 2							- intron
('ja')		'AG' MAF = 0.00959 Appears 8% in Europe and absent elsewhere.
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rs9976946	 at Chr21:35129932	 gave 'CT'  The minor allele is 'C' with a MAF = 0.00639
rs9976946	RUNX1  runt-related transcription factor 1					- intron
('bb')		'CT' MAF = 0.00639 Possibly 8% in Europe and absent elsewhere.
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rs9609052	 at Chr22:29419395	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00370
rs9609052	Intergenic									-
		'CT' MAF = 0.00370 Possibly 1% in Europe and absent elsewhere.
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rs9607875	 at Chr22:40809213	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00411
rs9607875	C22orf32  chromosome 22 open reading frame 32					- reading frame
('a')		'CT' MAF = 0.00411 Maybe 3% in Europe. less elsewhere.
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rs28578778	 at Chr22:40853344	 gave 'AG'  The minor allele is 'G' with a MAF = 0.00274
rs28578778	CYP2D6  cytochrome P450, family 2, subfamily D, polypeptide 6 			- intron
('a')		'AG' MAF = 0.00274  Frequency given by 1000 Genome Project.
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rs1135821	 at Chr22:40855703	 gave 'GG'  The minor allele is 'G' with a MAF = 0.00999
rs1135821	CYP2D6  cytochrome P450, family 2, subfamily D, polypeptide 6			- synonymous G111G
('b','eb')	'AG' MAF = 0.00999 No population data.
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rs11090143	 at Chr22:41850049	 gave 'CT'  The minor allele is 'T' with a MAF = 0.00776
rs11090143	BIK  BCL2-interacting killer (apoptosis-inducing)				- missense T26I
('bb')		'CT' MAF = 0.00776 Appears 2% in Europe & Asia and absent in Africa.
		The change T<>I is common and not likely to be significant.

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