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rs121965077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121965077(A;G)
Make rs121965077(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position80181120
GeneFAH
is asnp
is mentioned by
dbSNPrs121965077
ebirs121965077
HLIrs121965077
Exacrs121965077
Varsomers121965077
Maprs121965077
PheGenIrs121965077
hapmaprs121965077
1000 genomesrs121965077
hgdprs121965077
ensemblrs121965077
gopubmedrs121965077
geneviewrs121965077
scholarrs121965077
googlers121965077
pharmgkbrs121965077
gwascentralrs121965077
openSNPrs121965077
23andMers121965077
23andMe allrs121965077
SNP Nexus

SNPshotrs121965077
SNPdbers121965077
MSV3drs121965077
GWAS Ctlgrs121965077
Max Magnitude0
OMIM276700
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121965077(G;G)
Alt rs121965077(G;G)
Reference rs121965077(A;A)
Significance Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80473462A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012647.5,