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: rs201249971
rs201249971
8 0.776 0.120 3 185519292 missense variant A/T snv 1.6E-04 4.9E-05 0.010 1.000 1 2017 2017
dbSNP: rs201868115
rs201868115
3 0.882 0.080 3 185519286 missense variant G/T snv 9.5E-05 2.8E-05 0.010 1.000 1 2014 2014