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: rs367943249
rs367943249
2 1.000 0.040 1 47416772 missense variant G/A;C snv 4.2E-06 0.800 1.000 1 2016 2016
dbSNP: rs749960549
rs749960549
2 1.000 0.040 1 47416725 missense variant G/A snv 2.4E-05 0.800 1.000 1 2016 2016