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: rs104893740
rs104893740
2 0.925 0.080 3 50193139 missense variant G/A snv 4.0E-06 0.800 1.000 2 1996 2007
dbSNP: rs786205853
rs786205853
2 0.925 0.080 3 50194111 missense variant C/G snv 0.800 0