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: rs2282440
rs2282440
4 0.882 0.240 1 30874473 missense variant G/A;C snv 9.3E-02 0.700 0
dbSNP: rs2491132
rs2491132
3 0.925 0.240 1 30876800 missense variant C/A;G;T snv 8.3E-06; 0.15 0.700 0