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rs121965076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121965076(G;T)
Make rs121965076(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position80181069
GeneFAH
is asnp
is mentioned by
dbSNPrs121965076
ebirs121965076
HLIrs121965076
Exacrs121965076
Varsomers121965076
Maprs121965076
PheGenIrs121965076
hapmaprs121965076
1000 genomesrs121965076
hgdprs121965076
ensemblrs121965076
gopubmedrs121965076
geneviewrs121965076
scholarrs121965076
googlers121965076
pharmgkbrs121965076
gwascentralrs121965076
openSNPrs121965076
23andMers121965076
23andMe allrs121965076
SNP Nexus

SNPshotrs121965076
SNPdbers121965076
MSV3drs121965076
GWAS Ctlgrs121965076
Max Magnitude0
OMIM276700
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121965076(T;T)
Alt rs121965076(T;T)
Reference rs121965076(G;G)
Significance Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80473411G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012642.3,