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: rs1553192091
rs1553192091
2 0.925 0.080 1 116395247 missense variant C/A;G snv 0.010 1.000 1 2019 2019