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rs80338879

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338879(A;A)
Make rs80338879(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position100633515
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338879
ebirs80338879
HLIrs80338879
Exacrs80338879
Varsomers80338879
Maprs80338879
PheGenIrs80338879
hapmaprs80338879
1000 genomesrs80338879
hgdprs80338879
ensemblrs80338879
gopubmedrs80338879
geneviewrs80338879
scholarrs80338879
googlers80338879
pharmgkbrs80338879
gwascentralrs80338879
openSNPrs80338879
23andMers80338879
23andMe allrs80338879
SNP Nexus

SNPshotrs80338879
SNPdbers80338879
MSV3drs80338879
GWAS Ctlgrs80338879
Max Magnitude0
OMIM604720
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338879(A;A)
Alt rs80338879(A;A)
Reference rs80338879(T;T)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100231138A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005713.1,


[PMID 11313241] New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.