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rs80338886

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338886(G;G)
Make rs80338886(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position100628228
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338886
ebirs80338886
HLIrs80338886
Exacrs80338886
Varsomers80338886
Maprs80338886
PheGenIrs80338886
hapmaprs80338886
1000 genomesrs80338886
hgdprs80338886
ensemblrs80338886
gopubmedrs80338886
geneviewrs80338886
scholarrs80338886
googlers80338886
pharmgkbrs80338886
gwascentralrs80338886
openSNPrs80338886
23andMers80338886
23andMe allrs80338886
SNP Nexus

SNPshotrs80338886
SNPdbers80338886
MSV3drs80338886
GWAS Ctlgrs80338886
Max Magnitude0
ClinVar
Risk rs80338886(G;G)
Alt rs80338886(G;G)
Reference rs80338886(T;T)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100225851A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020539.1,


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