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rs80338885

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338885(A;A)
Make rs80338885(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position100628294
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338885
ebirs80338885
HLIrs80338885
Exacrs80338885
Varsomers80338885
Maprs80338885
PheGenIrs80338885
hapmaprs80338885
1000 genomesrs80338885
hgdprs80338885
ensemblrs80338885
gopubmedrs80338885
geneviewrs80338885
scholarrs80338885
googlers80338885
pharmgkbrs80338885
gwascentralrs80338885
openSNPrs80338885
23andMers80338885
23andMe allrs80338885
SNP Nexus

SNPshotrs80338885
SNPdbers80338885
MSV3drs80338885
GWAS Ctlgrs80338885
Max Magnitude0
ClinVar
Risk rs80338885(A;A)
Alt rs80338885(A;A)
Reference rs80338885(G;G)
Significance Pathogenic
Disease Hemochromatosis type 3 Hemochromatosis type 1
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3 Hemochromatosis type 1
Reversed 1
HGVS NC_000007.13:g.100225917C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020538.1, RCV000205036.1,


[PMID 17562347] A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.