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rs80338898

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier for a tyrosinemia type I allele
(T;T) 5 Tyrosinemia type I
ReferenceGRCh38 38.1/141
Chromosome15
Position80173089
GeneFAH
is asnp
is mentioned by
dbSNPrs80338898
ebirs80338898
HLIrs80338898
Exacrs80338898
Varsomers80338898
Maprs80338898
PheGenIrs80338898
hapmaprs80338898
1000 genomesrs80338898
hgdprs80338898
ensemblrs80338898
gopubmedrs80338898
geneviewrs80338898
scholarrs80338898
googlers80338898
pharmgkbrs80338898
gwascentralrs80338898
openSNPrs80338898
23andMers80338898
23andMe allrs80338898
SNP Nexus

SNPshotrs80338898
SNPdbers80338898
MSV3drs80338898
GWAS Ctlgrs80338898
Max Magnitude5
ClinVar
Risk rs80338898(T;T)
Alt rs80338898(T;T)
Reference rs80338898(C;C)
Significance Pathogenic
Disease Tyrosinemia type I not provided
Variation info
Gene FAH
CLNDBN Tyrosinemia type I not provided
Reversed 0
HGVS NC_000015.9:g.80465431C>T
CLNSRC HGMD
CLNACC RCV000020129.2, RCV000153220.3,


[PMID 9633815] Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.


[PMID 11754109] Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.