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: rs111733491
rs111733491
1 2 169236027 missense variant C/A;G;T snv 8.0E-06; 3.6E-05 0.700 0
dbSNP: rs759025536
rs759025536
1 2 169185615 missense variant C/A;T snv 8.0E-06 0.700 0