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: rs1055368753
rs1055368753
2 0.925 0.120 17 43092010 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs41293459
rs41293459
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.010 1.000 1 2019 2019