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: rs121434275
rs121434275
1 1.000 0.080 1 75761300 missense variant T/C snv 7.0E-06 0.800 1.000 16 1990 2001