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rs80338896

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338896(G;G)
Make rs80338896(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position80172143
GeneFAH
is asnp
is mentioned by
dbSNPrs80338896
ebirs80338896
HLIrs80338896
Exacrs80338896
Varsomers80338896
Maprs80338896
PheGenIrs80338896
hapmaprs80338896
1000 genomesrs80338896
hgdprs80338896
ensemblrs80338896
gopubmedrs80338896
geneviewrs80338896
scholarrs80338896
googlers80338896
pharmgkbrs80338896
gwascentralrs80338896
openSNPrs80338896
23andMers80338896
23andMe allrs80338896
SNP Nexus

SNPshotrs80338896
SNPdbers80338896
MSV3drs80338896
GWAS Ctlgrs80338896
Max Magnitude0
ClinVar
Risk rs80338896(C,G;C,G)
Alt rs80338896(C,G;C,G)
Reference rs80338896(T;T)
Significance Pathogenic
Disease Tyrosinemia type I
Variation info
Gene FAH
CLNDBN Tyrosinemia type I
Reversed 0
HGVS NC_000015.9:g.80464485T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020127.1,