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: rs193919334
rs193919334
1 1.000 0.080 22 18913492 missense variant G/A;C;T snv 1.0E-05 0.700 0
dbSNP: rs450046
rs450046
4 0.851 0.280 22 18913491 missense variant C/T snv 0.93 2.8E-03 0.700 0