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rs80338881

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338881(C;T)
Make rs80338881(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position100632099
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338881
ebirs80338881
HLIrs80338881
Exacrs80338881
Varsomers80338881
Maprs80338881
PheGenIrs80338881
hapmaprs80338881
1000 genomesrs80338881
hgdprs80338881
ensemblrs80338881
gopubmedrs80338881
geneviewrs80338881
scholarrs80338881
googlers80338881
pharmgkbrs80338881
gwascentralrs80338881
openSNPrs80338881
23andMers80338881
23andMe allrs80338881
SNP Nexus

SNPshotrs80338881
SNPdbers80338881
MSV3drs80338881
GWAS Ctlgrs80338881
Max Magnitude0
ClinVar
Risk rs80338881(T;T)
Alt rs80338881(T;T)
Reference rs80338881(C;C)
Significance Pathogenic
Disease Hemochromatosis type 3
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3
Reversed 1
HGVS NC_000007.13:g.100229722G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020552.1,


[PMID 15685557] Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes.