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rs80338889

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338889(A;C)
Make rs80338889(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position100626830
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338889
ebirs80338889
HLIrs80338889
Exacrs80338889
Varsomers80338889
Maprs80338889
PheGenIrs80338889
hapmaprs80338889
1000 genomesrs80338889
hgdprs80338889
ensemblrs80338889
gopubmedrs80338889
geneviewrs80338889
scholarrs80338889
googlers80338889
pharmgkbrs80338889
gwascentralrs80338889
openSNPrs80338889
23andMers80338889
23andMe allrs80338889
SNP Nexus

SNPshotrs80338889
SNPdbers80338889
MSV3drs80338889
GWAS Ctlgrs80338889
Max Magnitude0
OMIM604720
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80338889(C;C)
Alt rs80338889(C;C)
Reference rs80338889(A;A)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100224453T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005715.1,


[PMID 12130528] Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.