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: rs104893991
rs104893991
2 0.925 0.120 6 45438040 missense variant G/A snv 0.820 1.000 20 1997 2018