Source: CURATED

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: rs786204551
rs786204551
FAH
1.000 0.120 15 80186139 frameshift variant A/- del 1.4E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.700 1.000 2 1999 2011