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rs80338876

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338876(A;A)
Make rs80338876(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position100641198
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338876
ebirs80338876
HLIrs80338876
Exacrs80338876
Varsomers80338876
Maprs80338876
PheGenIrs80338876
hapmaprs80338876
1000 genomesrs80338876
hgdprs80338876
ensemblrs80338876
gopubmedrs80338876
geneviewrs80338876
scholarrs80338876
googlers80338876
pharmgkbrs80338876
gwascentralrs80338876
openSNPrs80338876
23andMers80338876
23andMe allrs80338876
SNP Nexus

SNPshotrs80338876
SNPdbers80338876
MSV3drs80338876
GWAS Ctlgrs80338876
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs80338876(A;A)
Alt rs80338876(A;A)
Reference rs80338876(G;G)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100238821C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020550.1,


[PMID 18245657] New TFR2 mutations in young Italian patients with hemochromatosis.