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rs80338883

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACA;ACA) 0 common in clinvar
Make rs80338883(-;-)
Make rs80338883(-;AAC)
Make rs80338883(AAC;AAC)
ReferenceGRCh38 38.1/141
Chromosome7
Position100630926
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338883
ebirs80338883
HLIrs80338883
Exacrs80338883
Varsomers80338883
Maprs80338883
PheGenIrs80338883
hapmaprs80338883
1000 genomesrs80338883
hgdprs80338883
ensemblrs80338883
gopubmedrs80338883
geneviewrs80338883
scholarrs80338883
googlers80338883
pharmgkbrs80338883
gwascentralrs80338883
openSNPrs80338883
23andMers80338883
23andMe allrs80338883
SNP Nexus

SNPshotrs80338883
SNPdbers80338883
MSV3drs80338883
GWAS Ctlgrs80338883
Max Magnitude0
ClinVar
Risk rs80338883(;)
Alt rs80338883(;)
Reference rs80338883(ACA;ACA)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100228549_100228551delGTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020535.1,


[PMID 18245657] New TFR2 mutations in young Italian patients with hemochromatosis.