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rs80338890

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338890(A;A)
Make rs80338890(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position100621127
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338890
ebirs80338890
HLIrs80338890
Exacrs80338890
Varsomers80338890
Maprs80338890
PheGenIrs80338890
hapmaprs80338890
1000 genomesrs80338890
hgdprs80338890
ensemblrs80338890
gopubmedrs80338890
geneviewrs80338890
scholarrs80338890
googlers80338890
pharmgkbrs80338890
gwascentralrs80338890
openSNPrs80338890
23andMers80338890
23andMe allrs80338890
SNP Nexus

SNPshotrs80338890
SNPdbers80338890
MSV3drs80338890
GWAS Ctlgrs80338890
Max Magnitude0
ClinVar
Risk rs80338890(A;A)
Alt rs80338890(A;A)
Reference rs80338890(G;G)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100218750C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020544.1,


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