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rs121965073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121965073(A;T)
Make rs121965073(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position80153101
GeneFAH
is asnp
is mentioned by
dbSNPrs121965073
ebirs121965073
HLIrs121965073
Exacrs121965073
Varsomers121965073
Maprs121965073
PheGenIrs121965073
hapmaprs121965073
1000 genomesrs121965073
hgdprs121965073
ensemblrs121965073
gopubmedrs121965073
geneviewrs121965073
scholarrs121965073
googlers121965073
pharmgkbrs121965073
gwascentralrs121965073
openSNPrs121965073
23andMers121965073
23andMe allrs121965073
SNP Nexus

SNPshotrs121965073
SNPdbers121965073
MSV3drs121965073
GWAS Ctlgrs121965073
Max Magnitude0
OMIM276700
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121965073(G,T;G,T)
Alt rs121965073(G,T;G,T)
Reference rs121965073(A;A)
Significance Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80445443A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012640.4,