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rs80338887

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338887(-;-)
Make rs80338887(-;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position100627761
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338887
ebirs80338887
HLIrs80338887
Exacrs80338887
Varsomers80338887
Maprs80338887
PheGenIrs80338887
hapmaprs80338887
1000 genomesrs80338887
hgdprs80338887
ensemblrs80338887
gopubmedrs80338887
geneviewrs80338887
scholarrs80338887
googlers80338887
pharmgkbrs80338887
gwascentralrs80338887
openSNPrs80338887
23andMers80338887
23andMe allrs80338887
SNP Nexus

SNPshotrs80338887
SNPdbers80338887
MSV3drs80338887
GWAS Ctlgrs80338887
Max Magnitude0
ClinVar
Risk rs80338887(;)
Alt rs80338887(;)
Reference rs80338887(C;C)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100225384delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020540.1,


[PMID 15749661] Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.