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: rs104893748
rs104893748
2 0.925 0.080 3 46859511 missense variant T/C snv 0.800 1.000 8 1996 2017