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: rs11583978
rs11583978
2 0.925 0.040 1 34864921 downstream gene variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs1477437491
rs1477437491
2 0.925 0.040 1 162367213 missense variant G/A snv 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs17162912
rs17162912
1 1.000 0.040 1 222801584 intergenic variant T/C snv 0.11 0.010 1.000 1 2018 2018
dbSNP: rs28696717
rs28696717
1 1.000 0.040 1 153493087 intergenic variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2020 2020
dbSNP: rs4387163
rs4387163
1 1.000 0.040 1 165026476 intergenic variant G/A snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs4652867
rs4652867
1 1.000 0.040 1 34901689 intron variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs6662980
rs6662980
1 1.000 0.040 1 34894477 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs7541937
rs7541937
1 1.000 0.040 1 34876381 intron variant T/G snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs1000592
rs1000592
1 1.000 0.040 2 118939624 upstream gene variant C/A snv 6.4E-03 0.010 1.000 1 2014 2014
dbSNP: rs6766410
rs6766410
2 1.000 0.040 3 184056974 missense variant C/A;T snv 0.45; 4.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs1000952
rs1000952
1 1.000 0.040 3 184038034 missense variant G/A;C;T snv 0.66; 3.6E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12635725
rs12635725
1 1.000 0.040 3 1895465 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1265692223
rs1265692223
1 1.000 0.040 3 184100530 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs13316193
rs13316193
4 0.882 0.040 3 8761057 intron variant T/C snv 0.45 0.010 < 0.001 1 2017 2017
dbSNP: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs2268490
rs2268490
2 1.000 0.040 3 8755399 intron variant C/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs2268493
rs2268493
3 0.882 0.040 3 8759154 intron variant T/C snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs237887
rs237887
2 1.000 0.040 3 8755356 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs4686301
rs4686301
2 1.000 0.040 3 8756900 intron variant C/T snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs4988462
rs4988462
2 0.925 0.120 3 87264203 intron variant C/T snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs6443930
rs6443930
1 1.000 0.040 3 184036506 splice donor variant G/A;C;T snv 0.46; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs7627615
rs7627615
2 0.925 0.040 3 184100628 missense variant G/A;C snv 0.64; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs7628229
rs7628229
1 1.000 0.040 3 184036872 missense variant C/G;T snv 6.4E-06; 2.7E-03 9.5E-03 0.010 1.000 1 2014 2014