FAH Chromosome 15

Fumarylacetoacetate hydrolase
193 variants 193 Health Risk

Upload your DNA to see your personal genotypes for variants in FAH.

What This Gene Does
Predicted to enable fumarylacetoacetase activity. Predicted to be involved in L-phenylalanine catabolic process; homogentisate catabolic process; and tyrosine catabolic process. Predicted to act upstream of or within arginine catabolic process. Located in extracellular exosome. Implicated in tyrosinemia type I. [provided by Alliance of Genome Resources, Apr 2025]
Associated Conditions (17)
Tyrosinemia type I
FAH-related disorder
Familial prostate cancer
Inborn genetic diseases
Renal tubulopathies
Beta-D-mannosidosis
See cases
Tyrosinemia
Familial cancer of breast
Nonpapillary renal cell carcinoma
Tyrosinemia type II
T-substance anomaly
Thyroid cancer
nonmedullary
1
Ovarian serous cystadenocarcinoma
Thymoma
Key Variants
RS1037374579
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I
Health Risk
RS1202678414
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I
Health Risk
RS121965076
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I
Health Risk
RS1342338851
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I
Health Risk
RS138757552
Conflicting classifications of pathogenicity
Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
Health Risk
RS139268254
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I
Health Risk
RS141827305
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I
Health Risk
RS144228661
Conflicting classifications of pathogenicity
Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
Health Risk
RS144902834
Conflicting classifications of pathogenicity
Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
Health Risk
RS145389125
Conflicting classifications of pathogenicity
Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
Health Risk
RS145851627
Conflicting classifications of pathogenicity
Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
Health Risk
RS147016995
Conflicting classifications of pathogenicity
Tyrosinemia type I, Tyrosinemia type I, FAH-related disorder
Health Risk
All Variants (193)
RSID Category Clinical Significance Conditions
RS1037374579 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS1202678414 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS121965076 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I, Tyrosinemia type I
RS1342338851 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS138757552 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
RS139268254 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS141827305 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS144228661 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
RS144902834 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
RS145389125 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
RS145851627 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
RS147016995 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I, FAH-related disorder
RS147796599 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
RS147946196 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
RS1490117712 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
RS1555442402 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS1567123622 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS186471906 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS188046704 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS200319726 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
RS200704926 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
RS201051426 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
RS202195651 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS2142086863 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS36122289 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS370095143 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS370273424 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS370634385 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS372980573 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS377313331 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS377480457 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
RS531129429 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder, Tyrosinemia type I
RS567587933 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS754196530 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS754336457 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS758347578 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS758464032 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS767329352 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Familial prostate cancer, Tyrosinemia type I
RS772014160 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Inborn genetic diseases, Tyrosinemia type I
RS772334351 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS774648934 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Renal tubulopathies, Tyrosinemia type I
RS774861939 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS775152764 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS779284513 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS780649150 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS886051496 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS886051497 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS895743403 Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Inborn genetic diseases, Tyrosinemia type I
RS1020717976 Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1057516333 Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
1 2 3 4 Next »
Sign Up to Analyze Your DNA Log In