Chromosome 18
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---------------------------------------------------------------------------------------------------------------- Summary of data - 23andMe No data = 0 Rare SNPs = 145 Minor Allele Frequency >0 and <0.01 = 215 Minor Allele Frequency >=0.01 and <0.02 = 611 Minor Allele Frequency >=0.02 and <0.03 = 751 Minor Allele Frequency >=0.03 and <0.05 = 1214 Minor Allele Frequency >=0.05 and <0.5 = 24912 Total of SNPs = 27848 There are also 123 i-SNPs for which there is no data ---------------------------------------------------------------------------------------------------------------- Summary of data - FTDNA No data = 0 Rare SNPs = 136 Minor Allele Frequency >0 and <0.01 = 177 Minor Allele Frequency >=0.01 and <0.02 = 570 Minor Allele Frequency >=0.02 and <0.03 = 610 Minor Allele Frequency >=0.03 and <0.05 = 905 Minor Allele Frequency >=0.05 and <0.5 = 18562 Total of common SNPs = 20960 There are also 825 unique SNPs for which there is no data ----------------------------------------------------------------------------------------------------------------
Example Reports:
---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Person:- 'b' (email withheld) <0.01: rs17746949 at Chr18:29578764 gave 'AG' The minor allele is 'A' with a MAF = 0.00822 ---------------------------------------------------------------------------------------------------------------- ----------------------------------------------------------------------------------------------------------------Submitted RS details for the <0.01 results:
rs number gene details type ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- rs499930 ZNF407 zinc finger protein 407 - intron ('c5') 'CT' MAF = 0.00868. Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs537141 Intergenic - ('ny') 'AG' MAF = 0.00868 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1014093 DYM dymeclin - intron ('fk') 'AG' MAF = 0.00776. Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1126251 DLGAP1 discs, large (Drosophila) homolog-associated protein 1 - intron ('tu') 'GT' MAF = 0.00900 Maybe 1% in Europe and very much higher in Asia. ---------------------------------------------------------------------------------------------------------------- rs1259802 Intergenic - ('fk') 'CT' MAF = 0.00502 Appears 9% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1377813 C18orf1 chromosome 18 open reading frame 1 - intron ('sg') 'AG' MAF = 0.00959 Maybe 6% in Europe and absent elsewhere. ('mc') 'AA' ---------------------------------------------------------------------------------------------------------------- rs1478059 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 - intron ('ly') 'CT' MAF = 0.00914. Possibly 7% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs1573346 CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 - intron ('gn') 'CT' MAF = 0.00502. Appears about 3% in Europe and 1% in Africa. ---------------------------------------------------------------------------------------------------------------- rs1683474 CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 - intron ('mg') 'AC' MAF = 0.00000. An uncommon SNP. ---------------------------------------------------------------------------------------------------------------- rs3218784 POLI polymerase (DNA directed) iota - missense I261M ('y') 'AG' MAF = 0.00776 Around 2% in Europe, possibly absent elsewhere. The change of I<>M is not particularly common. ---------------------------------------------------------------------------------------------------------------- rs3813090 MRO maestro - missense A2E ('nc') 'GT' MAF = 0.00594 Maybe 4% in Asia and absent elsewhere. The change A<>E is uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs4987745 BCL2 B-cell CLL/lymphoma 2 - intron ('za') 'CT' MAF = 0.00228. Possibly 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4987766 BCL2 B-cell CLL/lymphoma 2 - intron ('nt') 'AG' MAF = 0.00731. The 1000 Genome Project gives 7 per 1000. ---------------------------------------------------------------------------------------------------------------- rs4987779 BCL2 B-cell CLL/lymphoma 2 - intron ('je') 'CT' MAF = 0.00274. Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4987794 BCL2 B-cell CLL/lymphoma 2 - intron ('jn') 'AG' MAF = 0.00137. Appears 3% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4987817 BCL2 B-cell CLL/lymphoma 2 - intron ('zn') 'AG' MAF = 0.00959. Appears 6% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4987846 BCL2 B-cell CLL/lymphoma 2 - UTR-3 ('di') 'CT' MAF = 0.00548. Appears up to 4% in Asia and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs4987869 BCL2 B-cell CLL/lymphoma 2 - UTR-3 ('ne') 'GT' MAF = 0.00319. Appears 5% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7226494 TRAPPC8 trafficking protein particle complex 8 - intron ('fk') 'AG' MAF = 0.00776 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7238223 KATNAL2 katanin p60 subunit A-like 2 - intron ('fk') 'AG' MAF = 0.00868 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs7242632 Intergenic - ('fk') 'CT' MAF = 0.00457 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8083543 MBP myelin basic protein - UTR-3 ('ac') 'CT' MAF = 0.00914 Appears 8% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8084473 LOC284294 uncharacterized LOC284294 - intron ('da') 'AG' MAF = 0.00776 Appears 10% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs8092555 RALBP1 ralA binding protein 1 - intron ('tg') 'AC' MAF = 0.00000 An uncommon SNP - no data available. ---------------------------------------------------------------------------------------------------------------- rs9951523 DCC deleted in colorectal carcinoma - missense F23L ('hu') 'CT' MAF = 0.00959 Possibly 6% in Europe and absent elsewhere. The change F<>L is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs9954819 CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 - intron ('mg') 'CT' MAF = 0.00959 Appears 4% in Africa, 1% in Europe and absent from Asia. ---------------------------------------------------------------------------------------------------------------- rs9954881 Intergenic - ('en') 'AG' MAF = 0.00959 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs10454727 Intergenic - ('cm') 'CT' MAF = 0.00731 Appears 5% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11659639 Intergenic - ('cc') 'GT' MAF = 0.00822 Appears 5% in Europe, 2% in Asia and 1% in Africa. ---------------------------------------------------------------------------------------------------------------- rs11663402 SMAD4 SMAD family member 4 - UTR-3 ('ch') 'CT' MAF = 0.00502 Appears 1% in Europe and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs11663617 DLGAP1 discs, large (Drosophila) homolog-associated protein 1 - intron ('so') 'AG' MAF = 0.00411 The 1000 Genome Project gives 4 per 1000. ---------------------------------------------------------------------------------------------------------------- rs12605531 CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 - intron ('jy') 'CT' MAF = 0.00639 Appears 7% in Asia, 1% in Europe and absent from Africa. ---------------------------------------------------------------------------------------------------------------- rs12606658 CCDC178 chromosome 18 open reading frame 34 - missense A42T ('nr') 'CT' MAF = 0.00411 Appears 2% in Asia and absent elsewhere. The change A<>T is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs12961946 ZNF407 zinc finger protein 407 - intron ('jn') 'AG' MAF = 0.00914 Possibly 3% in Europe and less elsewhere. ---------------------------------------------------------------------------------------------------------------- rs12970198 SERPINB12 serpin peptidase inhibitor, clade B (ovalbumin), member 12 - missense H59Y ('dh') 'CT' MAF = 0.00400 Appears 2% in Asia, and 1% in Europe and Africa. The change H<>Y is fairly uncommon and the homozygous form could be significant. ---------------------------------------------------------------------------------------------------------------- rs13447329 MC4R melanocortin 4 receptor - missense T112M (2) ('ji') 'AG' MAF = 0.00999 An uncommon SNP. The chagne T<>M is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs16942191 PSMA8 proteasome (prosome, macropain) subunit, alpha type, 8 - intron ('fk') 'AG' MAF = 0.00594 Appears 13% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17089289 FAM69C family with sequence similarity 69, member C - missense A378V ('ly') 'AG' MAF = 0.00400 Appears 9% in Europe, higher in Asia and absent from Africa. The change A<>V is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- rs17181586 ZADH2 zinc binding alcohol dehydrogenase domain containing 2 - intron ('a') 'AG' MAF = 0.00594 Appears 5% in Europe, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17446826 CDH2 cadherin 2, type 1, N-cadherin (neuronal) - intron ('nk') 'AG' MAF = 0.00502 Maybe 10% in Europe and absent elsewhere. ('md') 'GG' ---------------------------------------------------------------------------------------------------------------- rs17493091 CDH2 cadherin 2, type 1, N-cadherin (neuronal) -intron ('fk') 'AG' MAF = 0.00914 Appears 11% in Africa and absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17648305 C18orf21 chromosome 18 open reading frame 21 - UTR-5 ('jd') 'CT' MAF = 0.00457 Appears 3% in Europe, possibly absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17675966 SLC14A1 solute carrier family 14 (urea transporter)(Kidd blood group) - intron ('a') 'AG' MAF = 0.00502 Appears 1% in Europe, lower elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17721715 SYT4 synaptotagmin IV - UTR-3 ('jw') 'AC' MAF = 0.00959 Appears 3% in Europe, absent elsewhere. ---------------------------------------------------------------------------------------------------------------- rs17746949 ASXL3 additional sex combs like 3 (Drosophila) - not known ('b') 'AG' MAF = 0.00822 Appears 7% in Europe and absent in Africa & Asia. ---------------------------------------------------------------------------------------------------------------- rs34136453 C18orf8 chromosome 18 open reading frame 8 - synonymous Y500Y ('a') 'CT' MAF = 0.00548 Appears 1-3% in Europe. ---------------------------------------------------------------------------------------------------------------- rs55680026 NPC1 Niemann-Pick disease, type C1 - missense N222S ('lb') 'CT' MAF = 0.00045 The 1000 Genome Project gives 1 per 2250. The change N<>S is common and unlikely to be significant. ---------------------------------------------------------------------------------------------------------------- ---------------------------------------------------------------------------------------------------------------- Note: A MAF = 0.00950 indicates the frequency is probably under 0.01 A MAF = 0.00999 indicates there is no population data for this SNP
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Summary of data - 23andMe
No data = 0
Rare SNPs = 145
Minor Allele Frequency >0 and <0.01 = 215
Minor Allele Frequency >=0.01 and <0.02 = 611
Minor Allele Frequency >=0.02 and <0.03 = 751
Minor Allele Frequency >=0.03 and <0.05 = 1214
Minor Allele Frequency >=0.05 and <0.5 = 24912
Total of SNPs = 27848
There are also 123 i-SNPs for which there is no data
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Summary of data - FTDNA
No data = 0
Rare SNPs = 136
Minor Allele Frequency >0 and <0.01 = 177
Minor Allele Frequency >=0.01 and <0.02 = 570
Minor Allele Frequency >=0.02 and <0.03 = 610
Minor Allele Frequency >=0.03 and <0.05 = 905
Minor Allele Frequency >=0.05 and <0.5 = 18562
Total of common SNPs = 20960
There are also 825 unique SNPs for which there is no data
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