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rs80338888

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCCGTGGCCCAG;GCCGTGGCCCAG) 0 common in clinvar
Make rs80338888(-;-)
Make rs80338888(-;GCCGTGGCCCAG)
ReferenceGRCh38 38.1/141
Chromosome7
Position100627387
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338888
ebirs80338888
HLIrs80338888
Exacrs80338888
Varsomers80338888
Maprs80338888
PheGenIrs80338888
hapmaprs80338888
1000 genomesrs80338888
hgdprs80338888
ensemblrs80338888
gopubmedrs80338888
geneviewrs80338888
scholarrs80338888
googlers80338888
pharmgkbrs80338888
gwascentralrs80338888
openSNPrs80338888
23andMers80338888
23andMe allrs80338888
SNP Nexus

SNPshotrs80338888
SNPdbers80338888
MSV3drs80338888
GWAS Ctlgrs80338888
Max Magnitude0
ClinVar
Risk rs80338888(;)
Alt rs80338888(;)
Reference rs80338888(GCCGTGGCCCAG;GCCGTGGCCCAG)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100225010_100225021delCTGGGCCACGGC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020543.1,


[PMID 11984516] Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene.