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: rs776022790
rs776022790
2 0.925 0.040 5 39202836 missense variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019