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rs80338877

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(CGG;CGG) 0 common in clinvar
Make rs80338877(-;-)
Make rs80338877(-;C)
Make rs80338877(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position100641173
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338877
ebirs80338877
HLIrs80338877
Exacrs80338877
Varsomers80338877
Maprs80338877
PheGenIrs80338877
hapmaprs80338877
1000 genomesrs80338877
hgdprs80338877
ensemblrs80338877
gopubmedrs80338877
geneviewrs80338877
scholarrs80338877
googlers80338877
pharmgkbrs80338877
gwascentralrs80338877
openSNPrs80338877
23andMers80338877
23andMe allrs80338877
SNP Nexus

SNPshotrs80338877
SNPdbers80338877
MSV3drs80338877
GWAS Ctlgrs80338877
Max Magnitude0
OMIM604720
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338877(C;C)
Alt rs80338877(C;C)
Reference rs80338877(CGG;CGG)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100238797dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005712.1,


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