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: rs528238821
rs528238821
2 0.925 0.080 10 5959786 missense variant C/A;T snv 7.6E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs80358240
rs80358240
4 0.851 0.160 22 50064168 missense variant G/T snv 7.0E-06 0.010 1.000 1 2004 2004