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rs80338878

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338878(C;T)
Make rs80338878(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position100640846
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338878
dbSNP (old)rs80338878
ClinGenrs80338878
ebirs80338878
HLIrs80338878
Exacrs80338878
Varsomers80338878
Maprs80338878
PheGenIrs80338878
Biobankrs80338878
1000 genomesrs80338878
hgdprs80338878
ensemblrs80338878
gopubmedrs80338878
geneviewrs80338878
scholarrs80338878
googlers80338878
pharmgkbrs80338878
gwascentralrs80338878
openSNPrs80338878
23andMers80338878
23andMe allrs80338878
SNP Nexus

SNPshotrs80338878
SNPdbers80338878
MSV3drs80338878
GWAS Ctlgrs80338878
Max Magnitude0
ClinVar
Risk rs80338878(T;T)
Alt rs80338878(T;T)
Reference Rs80338878(C;C)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100238469G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020548.1,


[PMID 15147384] Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent.