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rs80338880

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338880(C;G)
Make rs80338880(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position100633100
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338880
ebirs80338880
HLIrs80338880
Exacrs80338880
Varsomers80338880
Maprs80338880
PheGenIrs80338880
hapmaprs80338880
1000 genomesrs80338880
hgdprs80338880
ensemblrs80338880
gopubmedrs80338880
geneviewrs80338880
scholarrs80338880
googlers80338880
pharmgkbrs80338880
gwascentralrs80338880
openSNPrs80338880
23andMers80338880
23andMe allrs80338880
SNP Nexus

SNPshotrs80338880
SNPdbers80338880
MSV3drs80338880
GWAS Ctlgrs80338880
Max Magnitude0
OMIM604720
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338880(G;G)
Alt rs80338880(G;G)
Reference rs80338880(C;C)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100230723G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005711.1,


[PMID 10802645] The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.