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: rs104893750
rs104893750
3 0.882 0.080 3 46859529 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 4 1996 2013