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: rs2250889
rs2250889
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 < 0.001 1 2005 2005
dbSNP: rs2274756
rs2274756
4 0.851 0.200 20 46014472 missense variant G/A;C snv 0.010 < 0.001 1 2005 2005
dbSNP: rs2664538
rs2664538
6 0.827 0.200 20 46011586 missense variant A/G snv 0.010 < 0.001 1 2005 2005