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rs80338894

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338894(G;T)
Make rs80338894(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position80158170
GeneFAH
is asnp
is mentioned by
dbSNPrs80338894
dbSNP (classic)rs80338894
ClinGenrs80338894
ebirs80338894
HLIrs80338894
Exacrs80338894
Gnomadrs80338894
Varsomers80338894
LitVarrs80338894
Maprs80338894
PheGenIrs80338894
Biobankrs80338894
1000 genomesrs80338894
hgdprs80338894
ensemblrs80338894
geneviewrs80338894
scholarrs80338894
googlers80338894
pharmgkbrs80338894
gwascentralrs80338894
openSNPrs80338894
23andMers80338894
SNPshotrs80338894
SNPdbers80338894
MSV3drs80338894
GWAS Ctlgrs80338894
Max Magnitude0
ClinVar
Risk rs80338894(T;T)
Alt rs80338894(T;T)
Reference Rs80338894(G;G)
Significance Pathogenic
Disease Tyrosinemia type I not provided
Variation info
Gene FAH
CLNDBN Tyrosinemia type I not provided
Reversed 0
HGVS NC_000015.9:g.80450512G>T
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000020126.2, RCV000153218.3,