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rs121434374

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434374(A;A)
Make rs121434374(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position146018395
GeneHFE2
is asnp
is mentioned by
dbSNPrs121434374
dbSNP (classic)rs121434374
ClinGenrs121434374
ebirs121434374
HLIrs121434374
Exacrs121434374
Gnomadrs121434374
Varsomers121434374
LitVarrs121434374
Maprs121434374
PheGenIrs121434374
Biobankrs121434374
1000 genomesrs121434374
hgdprs121434374
ensemblrs121434374
geneviewrs121434374
scholarrs121434374
googlers121434374
pharmgkbrs121434374
gwascentralrs121434374
openSNPrs121434374
23andMers121434374
SNPshotrs121434374
SNPdbers121434374
MSV3drs121434374
GWAS Ctlgrs121434374
Max Magnitude0
OMIM608374
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121434374(A;A) rs121434374(G;G)
Alt rs121434374(A;A) rs121434374(G;G)
Reference Rs121434374(C;C)
Significance Pathogenic
Disease Hemochromatosis type 2A Hemochromatosis type 1
Variation info
Gene HFE2
CLNDBN Hemochromatosis type 2A Hemochromatosis type 1
Reversed 0
HGVS NC_000001.10:g.145416618C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002468.5, RCV000002469.5,