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rs80338882

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338882(C;T)
Make rs80338882(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position100630973
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338882
ebirs80338882
HLIrs80338882
Exacrs80338882
Varsomers80338882
Maprs80338882
PheGenIrs80338882
hapmaprs80338882
1000 genomesrs80338882
hgdprs80338882
ensemblrs80338882
gopubmedrs80338882
geneviewrs80338882
scholarrs80338882
googlers80338882
pharmgkbrs80338882
gwascentralrs80338882
openSNPrs80338882
23andMers80338882
23andMe allrs80338882
SNP Nexus

SNPshotrs80338882
SNPdbers80338882
MSV3drs80338882
GWAS Ctlgrs80338882
Max Magnitude0
ClinVar
Risk rs80338882(T;T)
Alt rs80338882(T;T)
Reference rs80338882(C;C)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100228596G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020534.1,


[PMID 16424658] Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.