Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 < 0.001 1 2004 2004