Ted Kandell
MINOR ALLELE PROGRAM REPORT
===========================
Ted Kandell ('tk') '284' 23andMe Results Chromosomes 1-22, X Revised 19 November 2012
The program finds just under 60 'rare/uncommon' SNPs from the 900,000+ tested by 23andMe.
There are no 'homozygous-recessive' results; and no suggestion of consanguinity.
The most interesting result is perhaps for:
'AT' rs1801155 APC adenomatous polyposis coli - missense I1307K
which is a 'carrier' status for a form of "Jewish" colon cancer'.
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RESULTS
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rs3001722 at Chr1a:43769007 gave 'AT' The minor allele is 'A' with a MAF = 0.00731
rs12751479 at Chr1b:97828595 gave 'GT' The minor allele is 'T' with a MAF = 0.00228
rs2275237 at Chr1b:149052435 gave 'AG' The minor allele is 'A' with a MAF = 0.00000.
rs16846879 at Chr1c:198789118 gave 'AG' The minor allele is 'G' with a MAF = 0.00548
rs16847867 at Chr1c:222636859 gave 'AG' The minor allele is 'G' with a MAF = 0.00000
rs11125073 at Chr2a:46468251 gave 'CT' The minor allele is 'C' with a MAF = 0.00411
rs2370192 at Chr2b:137343454 gave 'AT' The minor allele is 'A' with a MAF = 0.00731
rs2599 at Chr2c:198125481 gave 'CT' The minor allele is 'C' with a MAF = 0.00400.
rs13006003 at Chr2c:203562831 gave 'AG' The minor allele is 'A' with a MAF = 0.00685
rs41272687 at Chr2c:219387121 gave 'CT' The minor allele is 'T' with a MAF = 0.00685
rs34421970 at Chr3a:33034985 gave 'AG' The minor allele is 'A' with a MAF = 0.00594
rs2176898 at Chr3b:108030375 gave 'GT' The minor allele is 'G' with a MAF = 0.00731.
rs12721602 at Chr3b:120982546 gave 'AG' The minor allele is 'A' with a MAF = 0.00776
rs17488750 at Chr4a:16139889 gave 'CT' The minor allele is 'T' with a MAF = 0.00868
rs11936089 at Chr4a:17620962 gave 'CT' The minor allele is 'T' with a MAF = 0.00000
rs1801155 at Chr5b:112203110 gave 'AT' The minor allele is 'A' with a MAF = 0.00100
rs34353925 at Chr5c:146529671 gave 'CT' The minor allele is 'T' with a MAF = 0.00365
rs8192451 at Chr5c:148188207 gave 'CT' The minor allele is 'T' with a MAF = 0.00137
rs62642053 at Chr5c:178354533 gave 'CT' The minor allele is 'T' with a MAF = 0.00999
rs16870475 at Chr6a:10662308 gave 'AG' The minor allele is 'G' with a MAF = 0.00000
rs58554303 at Chr6a:28607546 gave 'CT' The minor allele is 'C' with a MAF = 0.00868
rs17200768 at Chr6a:31661914 gave 'CT' The minor allele is 'T' with a MAF = 0.00502
rs3101943 at Chr6a:33016730 gave 'AG' The minor allele is 'A' with a MAF = 0.00594
rs9658089 at Chr6a:35453137 gave 'CT' The minor allele is 'C' with a MAF = 0.00137
rs12189820 at Chr6b:132910800 gave 'CT' The minor allele is 'T' with a MAF = 0.00548
rs35703484 at Chr7a:17303122 gave 'AC' The minor allele is 'A' with a MAF = 0.00959
rs10253202 at Chr7a:17304950 gave 'AG' The minor allele is 'A' with a MAF = 0.00950
rs2158061 at Chr7a:24802007 gave 'AG' The minor allele is 'A' with a MAF = 0.00914
rs28371763 at Chr7b:99192744 gave 'AT' The minor allele is 'A' with a MAF = 0.00685
rs7801492 at Chr7b:100030053 gave 'AG' The minor allele is 'A' with a MAF = 0.00685
rs11765270 at Chr7b:103454826 gave 'AG' The minor allele is 'G' with a MAF = 0.00868
rs10487818 at Chr7b:105697297 gave 'AT' The minor allele is 'T' with a MAF = 0.00639
rs268 at Chr8a:19857809 gave 'AG' The minor allele is 'G' with a MAF = 0.00400
rs9692790 at Chr8a:29721425 gave 'CT' The minor allele is 'C' with a MAF = 0.00457
rs10811464 at Chr9a:21066087 gave 'AG' The minor allele is 'G' with a MAF = 0.00182
rs9282543 at Chr9b:106639197 gave 'AG' The minor allele is 'G' with a MAF = 0.00045.
rs17418918 at Chr9b:131613259 gave 'GT' The minor allele is 'G' with a MAF = 0.00731
rs12413425 at Chr10a:44871820 gave 'GT' The minor allele is 'G' with a MAF = 0.00731
rs4933986 at Chr10b:85983816 gave 'AG' The minor allele is 'A' with a MAF = 0.00685
rs36078476 at Chr10b:103815919 gave 'GT' The minor allele is 'G' with a MAF = 0.00411.
rs4918857 at Chr10b:115339452 gave 'AT' The minor allele is 'T' with a MAF = 0.00274
rs4647760 at Chr11a:47217127 gave 'AC' The minor allele is 'A' with a MAF = 0.00594
rs11227700 at Chr11a:66655756 gave 'AG' The minor allele is 'A' with a MAF = 0.00457
rs3212861 at Chr11a:69164632 gave 'AG' The minor allele is 'A' with a MAF = 0.00685
rs10894684 at Chr11b:132849346 gave 'AG' The minor allele is 'A' with a MAF = 0.00868
rs17725914 at Chr12a:6501249 gave 'AG' The minor allele is 'G' with a MAF = 0.00900
rs33995883 at Chr12a:39026953 gave 'AG' The minor allele is 'G' with a MAF = 0.00914
rs5745068 at Chr12b:131712813 gave 'CT' The minor allele is 'T' with a MAF = 0.00457.
rs12184642 at Chr13b:76637306 gave 'CT' The minor allele is 'T' with a MAF = 0.00685
rs7325797 at Chr13b:92132507 gave 'CT' The minor allele is 'C' with a MAF = 0.00959
rs11568438 at Chr14:22352176 gave 'AG' The minor allele is 'A' with a MAF = 0.00776.
rs2230500 at Chr14:60993992 gave 'AG' The minor allele is 'A' with a MAF = 0.00600
rs61329727 at Chr14:69322681 gave 'CT' The minor allele is 'T' with a MAF = 0.00200
rs721151 at Chr15:63850614 gave 'AC' The minor allele is 'A' with a MAF = 0.00822.
rs17227438 at Chr16:88331856 gave 'AG' The minor allele is 'A' with a MAF = 0.00091.
17-
rs1573346 at Chr18:22798669 gave 'CT' The minor allele is 'T' with a MAF = 0.00502.
rs59796499 at Chr19:5795547 gave 'GT' The minor allele is 'T' with a MAF = 0.00137
20-
21-
rs4253791 at Chr22:44964591 gave 'AT' The minor allele is 'A' with a MAF = 0.00639
rs17842890 at ChrX:2487187 gave 'AG' The minor allele is 'G' with a MAF = 0.00999
rs11797182 at ChrX:102207587 gave 'G' The minor allele is 'G' with a MAF = 0.00999
rs7880514 at ChrX:133983478 gave 'C' The minor allele is 'C' with a MAF = 0.00904
rs11465836 at ChrX:152935534 gave 'T' The minor allele is 'T' with a MAF = 0.00421.
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MISSENSE LIST
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rs2275237 at Chr1b:149052435 gave 'AG' The minor allele is 'A' with a MAF = 0.00000.
rs2275237 ARNT aryl hydrocarbon receptor nuclear translocator - missense P691L
('tk') 'AG' MAF = 0.00000. Possibly 2% in Asia and absent elsewhere.
The change P<>L is fairly common and unlikely to be significant.
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rs41272687 at Chr2c:219387121 gave 'CT' The minor allele is 'T' with a MAF = 0.00685
rs41272687 CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 - missense P384L
('ss') 'CT' MAF = 0.00685 Appears 3% worldwide, highest in Europe.
The change P<>L is fairly common, and unlikely to be significant.
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rs34421970 at Chr3a:33034985 gave 'AG' The minor allele is 'A' with a MAF = 0.00594
rs34421970 GLB1 galactosidase, beta 1 - missense L305F
('ma') 'AG' MAF = 0.00594 Possibly 2% worldwide.
The change L<>F is common and unlikely to be significant.
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rs1801155 at Chr5b:112203110 gave 'AT' The minor allele is 'A' with a MAF = 0.00100
rs1801155 APC adenomatous polyposis coli - missense I1307K
('tk') 'AT' MAF = 0.00100 Uncommon, appears 1 per 1000.
The change I<>K is uncommon and the homozygous form could be significant.
Carrier for 'Jewish' colon cancer risk, see:
http://www.ncbi.nlm.nih.gov/pubmed/16228836, http://www.ncbi.nlm.nih.gov/pubmed/14624392
& http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2889843/pdf/1471-2156-11-39.pdf
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rs62642053 at Chr5c:178354533 gave 'CT' The minor allele is 'T' with a MAF = 0.00999
rs62642053 GRM6 glutamate receptor, metabotropic 6 - missense A7T
('tk') 'CT' MAF = 0.00999 Possibly 1% in Europe.
The change A<>T is common and unlikely to be significant.
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rs58554303 at Chr6a:28607546 gave 'CT' The minor allele is 'C' with a MAF = 0.00868
rs58554303 GPX5 glutathione peroxidase 5 (epididymal androgen-related protein) - missense L85P
('tk') 'CT' MAF = 0.00868 Possibly 3% in Europe.
The change L<>P is fairly common and unlikely to be significant.
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rs7801492 at Chr7b:100030053 gave 'AG' The minor allele is 'A' with a MAF = 0.00685
rs7801492 FBXO24 F-box protein 24 - missense R302H
('tk') 'AG' MAF = 0.00685 Appears 4% in Europe, 2% in Asia and absent from Africa.
The change R<>H is uncommon and the homozygous form could be significant.
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rs268 at Chr8a: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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rs9282543 at Chr9b:106639197 gave 'AG' The minor allele is 'G' with a MAF = 0.00045.
rs9282543 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 - missense V399A
('tk') 'AG' MAF = 0.00045. Appears 1% in Europe and absent elsewhere.
The change V<>A is common and unlikely to be significant.
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rs36078476 at Chr10b:103815919 gave 'GT' The minor allele is 'G' with a MAF = 0.00411.
rs36078476 HPS6 Hermansky-Pudlak syndrome 6 - missense L233R
('ss') 'GT' MAF = 0.00411. Appears 1% worldwide.
The change L<>R is uncommon and the homozygous form could be significant.
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rs4918857 at Chr10b:115339452 gave 'AT' The minor allele is 'T' with a MAF = 0.00274
rs4918857 NRAP nebulin-related anchoring protein - missense L1684Q
('cm') 'AT' MAF = 0.00274 Appears about 1% worldwide, highest in Europe.
The change L<>Q is fairly uncommon and the homozygous form could be significant.
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rs17725914 at Chr12a:6501249 gave 'AG' The minor allele is 'G' with a MAF = 0.00900
rs17725914 NCAPD2 non-SMC condensin I complex, subunit D2 - missense K580R
('mh') 'AG' MAF = 0.00900 Maybe 1-2% in Europe, and absent elsewhere.
The change K<>R is uncommon and could be significant. An SNP to watch.
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rs33995883 at Chr12a:39026953 gave 'AG' The minor allele is 'G' with a MAF = 0.00914
rs33995883 LRRK2 leucine-rich repeat kinase 2 - missense N2081D
('tk') 'AG' MAF = 0.00914 Appears about 2% worldwide.
The change N<>D is common and unlikely to be significant.
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rs5745068 at Chr12b:131712813 gave 'CT' The minor allele is 'T' with a MAF = 0.00457.
rs5745068 POLE polymerase (DNA directed), epsilon - missense R2165H
('tk') 'CT' MAF = 0.00457. Appears about 1% worldwide.
The R<>H is uncommon and the homozygous form could be significant.
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rs11568438 at Chr14:22352176 gave 'AG' The minor allele is 'A' with a MAF = 0.00776.
rs11568438 SLC7A7 solute carrier family 7 - missense A91V
('ma') 'AG' MAF = 0.00776. Appears 4% in Europe, 2% in Asia and absent from Africa.
The change A<>V is common and unlikely to be significant.
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rs2230500 at Chr14:60993992 gave 'AG' The minor allele is 'A' with a MAF = 0.00600
rs2230500 PRKCH protein kinase C, eta - missense V374I
('a') 'AG' MAF = 0.00600 Worldwide 1%, but 2-3% Asia and absent elsewhere.
The change V<>I is very common, and normally harmless.
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rs59796499 at Chr19:5795547 gave 'GT' The minor allele is 'T' with a MAF = 0.00137
rs59796499 FUT3 fucosyltransferase 3 (Lewis blood group) - missense Q102K
('tk') 'GT' MAF = 0.00137 Possibly 4 per 1000 worldwide.
The change Q<>K is uncommon and the homozygous form could be significant.
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FULL SUMMARY
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rs3001722 at Chr1a:43769007 gave 'AT' The minor allele is 'A' with a MAF = 0.00731
rs3001722 Intergenic -
('ls') 'AT' MAF = 0.00731 Possibly about 2% in Europe.
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rs12751479 at Chr1b:97828595 gave 'GT' The minor allele is 'T' with a MAF = 0.00228
rs12751479 DPYD dihydropyrimidine dehydrogenase - intron
('jw') 'GT' MAF = 0.00228 Appears 1% in Europe and absent elsewhere.
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rs2275237 at Chr1b:149052435 gave 'AG' The minor allele is 'A' with a MAF = 0.00000.
rs2275237 ARNT aryl hydrocarbon receptor nuclear translocator - missense P691L
('tk') 'AG' MAF = 0.00000. Possibly 2% in Asia and absent elsewhere.
The change P<>L is fairly common and unlikely to be significant.
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rs16846879 at Chr1c:198789118 gave 'AG' The minor allele is 'G' with a MAF = 0.00548
rs16846879 KIF14 kinesin family member 14 - UTR-3
('tk') 'AG' MAF = 0.00548 Possibly 4% in Africa and absent elsewhere.
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rs16847867 at Chr1c:222636859 gave 'AG' The minor allele is 'G' with a MAF = 0.00000
rs16847867 Intergenic -
('cm') 'AG' MAF = 0.00000 Appears up to 40% in Africa, absent elsewhere.
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rs11125073 at Chr2a:46468251 gave 'CT' The minor allele is 'C' with a MAF = 0.00411
rs11125073 Intergenic -
('tk') 'CT' MAF = 0.00411 Appears 3% in Europe and absent elsewhere.
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rs2370192 at Chr2b:137343454 gave 'AT' The minor allele is 'A' with a MAF = 0.00731
rs2370192 Intergenic -
('si') 'AT' MAF = 0.00731 Possibly up to 8% in Europe.
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rs2599 at Chr2c:198125481 gave 'CT' The minor allele is 'C' with a MAF = 0.00400.
rs2599 MOB4 MOB family member 4, phocein - UTR-3
('lw') 'CT' MAF = 0.00400. The 1000 Genome Project gives 4 per 1000.
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rs13006003 at Chr2c:203562831 gave 'AG' The minor allele is 'A' with a MAF = 0.00685
rs13006003 Intergenic -
('f0') 'AG' MAF = 0.00685 Possibly 5% in Europe and less elsewhere.
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rs41272687 at Chr2c:219387121 gave 'CT' The minor allele is 'T' with a MAF = 0.00685
rs41272687 CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 - missense P384L
('ss') 'CT' MAF = 0.00685 Appears 3% worldwide, highest in Europe.
The change P<>L is fairly common, and unlikely to be significant.
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rs34421970 at Chr3a:33034985 gave 'AG' The minor allele is 'A' with a MAF = 0.00594
rs34421970 GLB1 galactosidase, beta 1 - missense L305F
('ma') 'AG' MAF = 0.00594 Possibly 2% worldwide.
The change L<>F is common and unlikely to be significant.
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rs2176898 at Chr3b:108030375 gave 'GT' The minor allele is 'G' with a MAF = 0.00731.
rs2176898 Intergenic -
('kr') 'GT' MAF = 0.00731. Appears 3% in Europe and less elsewhere.
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rs12721602 at Chr3b:120982546 gave 'AG' The minor allele is 'A' with a MAF = 0.00776
rs12721602 NR1I2 nuclear receptor subfamily 1, group I, member 2 - UTR-5
('eb') 'AG' MAF = 0.00776 Possibly 8% in Europe and absent elsewhere.
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rs17488750 at Chr4a:16139889 gave 'CT' The minor allele is 'T' with a MAF = 0.00868
rs17488750 LDB2 LIM domain binding 2 - intron
('cb') 'CT' MAF = 0.00868 Appears 7% in Europe and less elsewhere.
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rs11936089 at Chr4a: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
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rs1801155 at Chr5b:112203110 gave 'AT' The minor allele is 'A' with a MAF = 0.00100
rs1801155 APC adenomatous polyposis coli - missense I1307K
('tk') 'AT' MAF = 0.00100 Uncommon, appears 1 per 1000.
The change I<>K is uncommon and the homozygous form could be significant.
Carrier for 'Jewish' colon cancer risk, see:
http://www.ncbi.nlm.nih.gov/pubmed/16228836, http://www.ncbi.nlm.nih.gov/pubmed/14624392
& http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2889843/pdf/1471-2156-11-39.pdf
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rs34353925 at Chr5c:146529671 gave 'CT' The minor allele is 'T' with a MAF = 0.00365
rs34353925 Intergenic -
('ab') 'CT' MAF = 0.00365 The 1000 genome Project gives 3 per 1000.
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rs8192451 at Chr5c:148188207 gave 'CT' The minor allele is 'T' with a MAF = 0.00137
rs8192451 ADRB2 adrenergic, beta-2-, receptor, surface - UTR-3
('ss') 'CT' MAF = 0.00137 Maybe about 1% worldwide.
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rs62642053 at Chr5c:178354533 gave 'CT' The minor allele is 'T' with a MAF = 0.00999
rs62642053 GRM6 glutamate receptor, metabotropic 6 - missense A7T
('tk') 'CT' MAF = 0.00999 Possibly 1% in Europe.
The change A<>T is common and unlikely to be significant.
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rs16870475 at Chr6a:10662308 gave 'AG' The minor allele is 'G' with a MAF = 0.00000
rs16870475 GCNT2 glucosaminyl (N-acetyl) transferase 2, (I blood group) - intron
('tk') 'AG' MAF = 0.00000 Possibly 20% in Africa, and absent elsewhere.
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rs58554303 at Chr6a:28607546 gave 'CT' The minor allele is 'C' with a MAF = 0.00868
rs58554303 GPX5 glutathione peroxidase 5 (epididymal androgen-related protein) - missense L85P
('tk') 'CT' MAF = 0.00868 Possibly 3% in Europe.
The change L<>P is fairly common and unlikely to be significant.
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rs17200768 at Chr6a:31661914 gave 'CT' The minor allele is 'T' with a MAF = 0.00502
rs17200768 LST1 leukocyte specific transcript 1 - nearGene-5
('tk') 'CT' MAF = 0.00502 Possibly 3% in Europe.
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rs3101943 at Chr6a:33016730 gave 'AG' The minor allele is 'A' with a MAF = 0.00594
rs3101943 HLA-DMB major histocompatibility complex, class II, DM beta - UTR-5
('tk') 'AG' MAF = 0.00594 Appears 2% in Europe and absent elsewhere.
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rs9658089 at Chr6a:35453137 gave 'CT' The minor allele is 'C' with a MAF = 0.00137
rs9658089 PPARD peroxisome proliferator-activated receptor delta - intron
('tk') 'CT' MAF = 0.00137 Possibly 2% worldwide.
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rs12189820 at Chr6b:132910800 gave 'CT' The minor allele is 'T' with a MAF = 0.00548
rs12189820 Intergenic -
('tk') 'CT' MAF = 0.00548 Appears 5% in Europe and absent elsewhere.
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rs35703484 at Chr7a:17303122 gave 'AC' The minor allele is 'A' with a MAF = 0.00959
rs35703484 AHR aryl hydrocarbon receptor - nearGene-5
('tk') 'AC' MAF = 0.00959 Possibly 1% in Europe.
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rs10253202 at Chr7a:17304950 gave 'AG' The minor allele is 'A' with a MAF = 0.00950
rs10253202 AHR aryl hydrocarbon receptor - UTR-5
('tk') 'AG' MAF = 0.00950 Possibly 3% in Europe.
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rs2158061 at Chr7a:24802007 gave 'AG' The minor allele is 'A' with a MAF = 0.00914
rs2158061 Intergenic -
('mj') 'AG' MAF = 0.00914 Appears about 1% in Europe and Africa, absent in Asia.
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rs28371763 at Chr7b:99192744 gave 'AT' The minor allele is 'A' with a MAF = 0.00685
rs28371763 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 - UTR-3
'AT' MAF = 0.00685 Possibly 13% in Europe and much less elsewhere.
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rs7801492 at Chr7b:100030053 gave 'AG' The minor allele is 'A' with a MAF = 0.00685
rs7801492 FBXO24 F-box protein 24 - missense R302H
('tk') 'AG' MAF = 0.00685 Appears 4% in Europe, 2% in Asia and absent from Africa.
The change R<>H is uncommon and the homozygous form could be significant.
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rs11765270 at Chr7b:103454826 gave 'AG' The minor allele is 'G' with a MAF = 0.00868
rs11765270 Intergenic -
('tk') 'AG' MAF = 0.00868 Possibly 10% in Europe, 1% in Africa and absent from Asia.
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rs10487818 at Chr7b:105697297 gave 'AT' The minor allele is 'T' with a MAF = 0.00639
rs10487818 NAMPT nicotinamide phosphoribosyltransferase - intron
('lw') 'AT' MAF = 0.00639 Appears 8% in Europe and absent elsewhere.
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rs268 at Chr8a: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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rs9692790 at Chr8a:29721425 gave 'CT' The minor allele is 'C' with a MAF = 0.00457
rs9692790 Intergenic -
('ss') 'CT' MAF = 0.00457 The 1000 Genome Project gives 6 per 1000.
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rs10811464 at Chr9a: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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rs9282543 at Chr9b:106639197 gave 'AG' The minor allele is 'G' with a MAF = 0.00045.
rs9282543 ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 - missense V399A
('tk') 'AG' MAF = 0.00045. Appears 1% in Europe and absent elsewhere.
The change V<>A is common and unlikely to be significant.
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rs17418918 at Chr9b:131613259 gave 'GT' The minor allele is 'G' with a MAF = 0.00731
rs17418918 TOR1B torsin family 1, member B (torsin B) - UTR-3
('ut') 'GT' MAF = 0.00731 Poor population data.
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rs12413425 at Chr10a:44871820 gave 'GT' The minor allele is 'G' with a MAF = 0.00731
rs12413425 Intergenic -
('wv') 'GT' MAF = 0.00731 Appears 1% in Europe and absent elsewhere.
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rs4933986 at Chr10b:85983816 gave 'AG' The minor allele is 'A' with a MAF = 0.00685
rs4933986 LRIT1 leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 - synonymous N296N
('rr') 'AG' MAF = 0.00685 Possibly 10% in Europe, 2% in Asia and absent from Africa.
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rs36078476 at Chr10b:103815919 gave 'GT' The minor allele is 'G' with a MAF = 0.00411.
rs36078476 HPS6 Hermansky-Pudlak syndrome 6 - missense L233R
('ss') 'GT' MAF = 0.00411. Appears 1% worldwide.
The change L<>R is uncommon and the homozygous form could be significant.
----------------------------------------------------------------------------------------------------------------
rs4918857 at Chr10b:115339452 gave 'AT' The minor allele is 'T' with a MAF = 0.00274
rs4918857 NRAP nebulin-related anchoring protein - missense L1684Q
('cm') 'AT' MAF = 0.00274 Appears about 1% worldwide, highest in Europe.
The change L<>Q is fairly uncommon and the homozygous form could be significant.
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rs4647760 at Chr11a: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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rs11227700 at Chr11a:66655756 gave 'AG' The minor allele is 'A' with a MAF = 0.00457
rs11227700 KDM2A lysine (K)-specific demethylase 2A - intron
('pa') 'AG' MAF = 0.00457 Maybe 3% in Europe and absent elsewhere.
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rs3212861 at Chr11a:69164632 gave 'AG' The minor allele is 'A' with a MAF = 0.00685
rs3212861 CCND1 cyclin D1 - nearGene-5
('k') 'AG' MAF = 0.00685 Worldwide 2-3%, maybe up to 5% in Italy.
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rs10894684 at Chr11b:132849346 gave 'AG' The minor allele is 'A' with a MAF = 0.00868
rs10894684 OPCML opioid binding protein/cell adhesion molecule-like - intron
('gr') 'AG' MAF = 0.00868 Appears 7% in Europe and less elsewhere.
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rs17725914 at Chr12a:6501249 gave 'AG' The minor allele is 'G' with a MAF = 0.00900
rs17725914 NCAPD2 non-SMC condensin I complex, subunit D2 - missense K580R
('mh') 'AG' MAF = 0.00900 Appears 1% in Europe, and absent elsewhere.
The change K<>R is uncommon and the homozygous form could be significant.
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rs33995883 at Chr12a:39026953 gave 'AG' The minor allele is 'G' with a MAF = 0.00914
rs33995883 LRRK2 leucine-rich repeat kinase 2 - missense N2081D
('tk') 'AG' MAF = 0.00914 Appears about 2% worldwide.
The change N<>D is common and unlikely to be significant.
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rs5745068 at Chr12b:131712813 gave 'CT' The minor allele is 'T' with a MAF = 0.00457.
rs5745068 POLE polymerase (DNA directed), epsilon - missense R2165H
('tk') 'CT' MAF = 0.00457. Appears about 1% worldwide.
The R<>H is uncommon and the homozygous form could be significant.
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rs12184642 at Chr13b:76637306 gave 'CT' The minor allele is 'T' with a MAF = 0.00685
rs12184642 MYCBP2 MYC binding protein 2 - intron
('mh') 'CT' MAF = 0.00685 Poor data. Maybe 5% in Europe, so lower elsewhere.
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rs7325797 at Chr13b:92132507 gave 'CT' The minor allele is 'C' with a MAF = 0.00959
rs7325797 GPC5 glypican 5 - intron
('tk') 'CT' MAF = 0.00959 Appears 6% in Africa and absent elsewhere.
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rs11568438 at Chr14:22352176 gave 'AG' The minor allele is 'A' with a MAF = 0.00776.
rs11568438 SLC7A7 solute carrier family 7 - missense A91V
('ma') 'AG' MAF = 0.00776. Appears 4% in Europe, 2% in Asia and absent from Africa.
The change A<>V is common and unlikely to be significant.
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rs2230500 at Chr14:60993992 gave 'AG' The minor allele is 'A' with a MAF = 0.00600
rs2230500 PRKCH protein kinase C, eta - missense V374I
('a') 'AG' MAF = 0.00600 Worldwide 1%, but 2-3% Asia and absent elsewhere.
The change V<>I is very common, and normally harmless.
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rs61329727 at Chr14:69322681 gave 'CT' The minor allele is 'T' with a MAF = 0.00200
rs61329727 SLC10A1 solute carrier family 10 - synonymous K151K
('tk') 'CT' MAF = 0.00200 Possibly 4 per 1000 worldwide.
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rs721151 at Chr15:63850614 gave 'AC' The minor allele is 'A' with a MAF = 0.00822.
rs721151 DENND4A DENN/MADD domain containing 4A - intron
('lr') 'AC' MAF = 0.00822. Appears 1% in Europe.
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rs17227438 at Chr16:88331856 gave 'AG' The minor allele is 'A' with a MAF = 0.00091.
rs17227438 FANCA Fanconi anemia, complementation group A - UTR-3
('tk') 'AG' MAF = 0.00091. An uncommon SNP.
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rs1573346 at Chr18:22798669 gave 'CT' The minor allele is 'T' with a MAF = 0.00502.
rs1573346 CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 - intron
('gn') 'CT' MAF = 0.00502. Appears about 3% in Europe and 1% in Africa.
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rs59796499 at Chr19:5795547 gave 'GT' The minor allele is 'T' with a MAF = 0.00137
rs59796499 FUT3 fucosyltransferase 3 (Lewis blood group) - missense Q102K
('tk') 'GT' MAF = 0.00137 Possibly 4 per 1000 worldwide.
The change Q<>K is uncommon and the homozygous form could be significant.
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rs4253791 at Chr22:44964591 gave 'AT' The minor allele is 'A' with a MAF = 0.00639
rs4253791 PPARA peroxisome proliferator-activated receptor alpha - intron
('tk') 'AT' MAF = 0.00639 Appears 4% in Europe and absent elsewhere.
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rs17842890 at ChrX:2487187 gave 'AG' The minor allele is 'G' with a MAF = 0.00999
rs17842890 Intergenic -
'AG' MAF = 0.00999 Possibly 4% in Europe.
('sy') 'GG'
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rs11797182 at ChrX:102207587 gave 'G' The minor allele is 'G' with a MAF = 0.00999
rs11797182 BEX1 brain expressed, X-linked 1 - nearGene-5
('k') 'AG' MAF = 0.00999 Possibly 2% in Europe and less elsewhere.
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rs7880514 at ChrX:133983478 gave 'C' The minor allele is 'C' with a MAF = 0.00904
rs7880514 FAM127C family with sequence similarity 127, member C - UTR-3
('tk'-XY) 'C' MAF = 0.00904 An uncommon SNP.
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rs11465836 at ChrX:152935534 gave 'T' The minor allele is 'T' with a MAF = 0.00421.
rs11465836 IRAK1 interleukin-1 receptor-associated kinase 1 - intron
('k') 'GT' MAF = 0.00421. Appears about 1% worldwide.
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