rs80338901
A SNP in the FAH gene on chromosome 15. Its most notable genotype is A;A: Tyrosinemia type I
- Gene
- FAH
- Location
- Chr 1580,180,230 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadTyrosinemia type I
- A;GBadcarrier for a tyrosinemia type I allele
- G;GGoodcommon in clinvar
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Show notes, about 120 words
Two novel mutations involved in hereditary tyrosinemia type I. A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.
Source and license
Adapted from rs80338901 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.