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rs28934596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 Carrier of a hemochromatosis variant
(T;T) 0 common in clinvar


Make rs28934596(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position26091078
GeneHFE, LOC108783645
is asnp
is mentioned by
dbSNPrs28934596
dbSNP (classic)rs28934596
ClinGenrs28934596
ebirs28934596
HLIrs28934596
Exacrs28934596
Gnomadrs28934596
Varsomers28934596
LitVarrs28934596
Maprs28934596
PheGenIrs28934596
Biobankrs28934596
1000 genomesrs28934596
hgdprs28934596
ensemblrs28934596
geneviewrs28934596
scholarrs28934596
googlers28934596
pharmgkbrs28934596
gwascentralrs28934596
openSNPrs28934596
23andMers28934596
23andMe allrs28934596
SNPshotrs28934596
SNPdbers28934596
MSV3drs28934596
GWAS Ctlgrs28934596
Max Magnitude3
OMIM235200
DescHEMOCHROMATOSIS
Variant0009
Relatedalso


OMIM613609
Desc
Variant0009
Relatedalso


ClinVar
Risk rs28934596(C;C)
Alt rs28934596(C;C)
Reference Rs28934596(T;T)
Significance Pathogenic
Disease Hemochromatosis type 1
Variation info
Gene HFE
CLNDBN Hemochromatosis type 1
Reversed 0
HGVS NC_000006.11:g.26091306T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000029.4,