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: rs1057518443
rs1057518443
3 1.000 0.040 X 120557964 missense variant T/C snv 0.010 1.000 1 2018 2018