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: rs1057519816
rs1057519816
14 0.763 0.200 17 39711955 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs372043866
rs372043866
18 0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05 0.010 1.000 1 2014 2014