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rs80338891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338891(A;A)
Make rs80338891(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position100620889
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338891
ebirs80338891
HLIrs80338891
Exacrs80338891
Varsomers80338891
Maprs80338891
PheGenIrs80338891
hapmaprs80338891
1000 genomesrs80338891
hgdprs80338891
ensemblrs80338891
gopubmedrs80338891
geneviewrs80338891
scholarrs80338891
googlers80338891
pharmgkbrs80338891
gwascentralrs80338891
openSNPrs80338891
23andMers80338891
23andMe allrs80338891
SNP Nexus

SNPshotrs80338891
SNPdbers80338891
MSV3drs80338891
GWAS Ctlgrs80338891
Max Magnitude0
ClinVar
Risk rs80338891(A;A)
Alt rs80338891(A;A)
Reference rs80338891(G;G)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100218512C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020547.1,


[PMID 16424658] Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R.