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: rs387906788
rs387906788
1 1.000 5 56856683 missense variant T/A;C;G snv 0.800 1.000 2 2006 2010
dbSNP: rs143853590
rs143853590
1 1.000 5 56875191 missense variant G/A;C;T snv 6.1E-04; 1.6E-05; 2.4E-05 0.700 1.000 2 2006 2010