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: rs1131012
rs1131012
10 0.763 0.280 17 64350416 missense variant T/C snv 0.38 0.040 1.000 4 2001 2013
dbSNP: rs12953
rs12953
9 0.763 0.200 17 64356203 missense variant C/A;T snv 0.38 0.040 1.000 4 2001 2013
dbSNP: rs281865545
rs281865545
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.040 1.000 4 2003 2016
dbSNP: rs668
rs668
4 0.851 0.240 17 64377836 missense variant C/G;T snv 0.020 1.000 2 2013 2016