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rs121965074

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121965074(A;A)
Make rs121965074(A;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position80162282
GeneFAH
is asnp
is mentioned by
dbSNPrs121965074
ebirs121965074
HLIrs121965074
Exacrs121965074
Varsomers121965074
Maprs121965074
PheGenIrs121965074
hapmaprs121965074
1000 genomesrs121965074
hgdprs121965074
ensemblrs121965074
gopubmedrs121965074
geneviewrs121965074
scholarrs121965074
googlers121965074
pharmgkbrs121965074
gwascentralrs121965074
openSNPrs121965074
23andMers121965074
23andMe allrs121965074
SNP Nexus

SNPshotrs121965074
SNPdbers121965074
MSV3drs121965074
GWAS Ctlgrs121965074
Max Magnitude0
OMIM276700
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121965074(A;A)
Alt rs121965074(A;A)
Reference rs121965074(C;C)
Significance Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80454624C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012641.3,