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rs121965078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121965078(A;G)
Make rs121965078(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position80173143
GeneFAH
is asnp
is mentioned by
dbSNPrs121965078
ebirs121965078
HLIrs121965078
Exacrs121965078
Varsomers121965078
Maprs121965078
PheGenIrs121965078
hapmaprs121965078
1000 genomesrs121965078
hgdprs121965078
ensemblrs121965078
gopubmedrs121965078
geneviewrs121965078
scholarrs121965078
googlers121965078
pharmgkbrs121965078
gwascentralrs121965078
openSNPrs121965078
23andMers121965078
23andMe allrs121965078
SNP Nexus

SNPshotrs121965078
SNPdbers121965078
MSV3drs121965078
GWAS Ctlgrs121965078
Max Magnitude0
OMIM276700
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121965078(G;G)
Alt rs121965078(G;G)
Reference rs121965078(A;A)
Significance Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80465485A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012650.3,