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rs121965075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier for a tyrosinemia type I allele
(T;T) 5 Tyrosinemia type I
ReferenceGRCh38 38.1/141
Chromosome15
Position80181048
GeneFAH
is asnp
is mentioned by
dbSNPrs121965075
ebirs121965075
HLIrs121965075
Exacrs121965075
Varsomers121965075
Maprs121965075
PheGenIrs121965075
hapmaprs121965075
1000 genomesrs121965075
hgdprs121965075
ensemblrs121965075
gopubmedrs121965075
geneviewrs121965075
scholarrs121965075
googlers121965075
pharmgkbrs121965075
gwascentralrs121965075
openSNPrs121965075
23andMers121965075
23andMe allrs121965075
SNP Nexus

SNPshotrs121965075
SNPdbers121965075
MSV3drs121965075
GWAS Ctlgrs121965075
Max Magnitude5
OMIM276700
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121965075(T;T)
Alt rs121965075(T;T)
Reference rs121965075(G;G)
Significance Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80473390G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012646.5,