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: rs201238819
rs201238819
1 1.000 0.120 16 2104572 missense variant A/C;G;T snv 1.1E-03; 1.6E-04 0.700 1.000 20 1996 2009