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: rs3752246
rs3752246
2 1.000 0.080 19 1056493 missense variant G/C;T snv 0.84; 4.1E-06 0.850 0.833 6 2011 2019