Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.962 26 2003 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.957 23 2003 2019
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.090 0.889 9 2009 2019
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.030 1.000 3 2013 2019
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1409851868
rs1409851868
6 0.882 0.080 3 89399325 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs2271933
rs2271933
9 0.807 0.080 1 31626924 missense variant A/G snv 0.56 0.50 0.010 1.000 1 2019 2019
dbSNP: rs4630333
rs4630333
4 0.882 0.040 12 56443632 intron variant C/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs6782011
rs6782011
7 0.807 0.120 3 7457960 intron variant C/T snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs779867
rs779867
9 0.776 0.120 3 7442784 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs78809014
rs78809014
1 9 125542973 intron variant C/G snv 5.8E-03 2.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.040 1.000 4 2001 2018
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.030 0.667 3 2010 2018
dbSNP: rs10020288
rs10020288
2 1.000 0.040 4 28686220 intergenic variant G/A snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs10144845
rs10144845
2 1.000 0.040 14 74771067 intron variant C/T snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs10156548
rs10156548
2 1.000 0.040 9 23318435 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10405382
rs10405382
2 1.000 0.040 19 32405810 5 prime UTR variant C/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs10429537
rs10429537
2 1.000 0.040 9 23346844 intron variant C/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs1055447
rs1055447
2 1.000 0.040 11 47164873 3 prime UTR variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10891564
rs10891564
2 1.000 0.040 11 113503291 intergenic variant G/A snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs10950393
rs10950393
2 1.000 0.040 7 12223920 intron variant T/C snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs10965780
rs10965780
3 1.000 0.040 9 23341717 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11039149
rs11039149
6 0.827 0.280 11 47255124 intron variant A/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs11039409
rs11039409
2 1.000 0.040 11 47814169 intron variant A/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs11152363
rs11152363
2 1.000 0.040 18 55389957 intron variant G/A snv 0.16 0.700 1.000 1 2018 2018