Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs120074192
rs120074192
0.763 0.120 11 2527959 missense variant A/G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 < 0.001 1 2007 2007