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rs80338897

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338897(A;T)
Make rs80338897(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position80172240
GeneFAH
is asnp
is mentioned by
dbSNPrs80338897
ebirs80338897
HLIrs80338897
Exacrs80338897
Varsomers80338897
Maprs80338897
PheGenIrs80338897
hapmaprs80338897
1000 genomesrs80338897
hgdprs80338897
ensemblrs80338897
gopubmedrs80338897
geneviewrs80338897
scholarrs80338897
googlers80338897
pharmgkbrs80338897
gwascentralrs80338897
openSNPrs80338897
23andMers80338897
23andMe allrs80338897
SNP Nexus

SNPshotrs80338897
SNPdbers80338897
MSV3drs80338897
GWAS Ctlgrs80338897
Max Magnitude0
ClinVar
Risk rs80338897(T;T)
Alt rs80338897(T;T)
Reference rs80338897(A;A)
Significance Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80464582A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020128.2,


[PMID 11278491] Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.