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: rs374993554
rs374993554
3 0.925 7 100113899 missense variant A/G;T snv 3.2E-05 0.800 1.000 2 2015 2015
dbSNP: rs727503778
rs727503778
2 0.925 0.080 7 100114074 missense variant G/A snv 0.800 0