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: rs757494578
rs757494578
2 0.925 0.120 7 142912681 missense variant A/C snv 0.020 1.000 2 2015 2017
dbSNP: rs4236480
rs4236480
3 0.882 0.120 7 142929454 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015