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rs80338899

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Tyrosinemia type I
(A;G) 3 carrier for a tyrosinemia type I allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome15
Position80173093
GeneFAH
is asnp
is mentioned by
dbSNPrs80338899
ebirs80338899
HLIrs80338899
Exacrs80338899
Varsomers80338899
Maprs80338899
PheGenIrs80338899
hapmaprs80338899
1000 genomesrs80338899
hgdprs80338899
ensemblrs80338899
gopubmedrs80338899
geneviewrs80338899
scholarrs80338899
googlers80338899
pharmgkbrs80338899
gwascentralrs80338899
openSNPrs80338899
23andMers80338899
23andMe allrs80338899
SNP Nexus

SNPshotrs80338899
SNPdbers80338899
MSV3drs80338899
GWAS Ctlgrs80338899
Max Magnitude5
OMIM276700
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80338899(A;A)
Alt rs80338899(A;A)
Reference rs80338899(G;G)
Significance Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80465435G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012648.6,


[PMID 8162054] Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

[PMID 8723698] Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.