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: rs17482078
rs17482078
4 0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15 0.820 1.000 3 2013 2019
dbSNP: rs10050860
rs10050860
4 0.882 0.240 5 96786506 missense variant C/T snv 0.15 0.16 0.020 1.000 2 2015 2015
dbSNP: rs27044
rs27044
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.020 1.000 2 2019 2020
dbSNP: rs1065407
rs1065407
1 1.000 0.200 5 96776379 3 prime UTR variant T/A;G snv 3.3E-05; 0.26 0.010 1.000 1 2015 2015
dbSNP: rs13154629
rs13154629
1 1.000 0.200 5 96786754 non coding transcript exon variant C/T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs30187
rs30187
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2018 2018