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rs121434375

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434375(A;T)
Make rs121434375(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position146019672
GeneHFE2
is asnp
is mentioned by
dbSNPrs121434375
dbSNP (classic)rs121434375
ClinGenrs121434375
ebirs121434375
HLIrs121434375
Exacrs121434375
Gnomadrs121434375
Varsomers121434375
LitVarrs121434375
Maprs121434375
PheGenIrs121434375
Biobankrs121434375
1000 genomesrs121434375
hgdprs121434375
ensemblrs121434375
geneviewrs121434375
scholarrs121434375
googlers121434375
pharmgkbrs121434375
gwascentralrs121434375
openSNPrs121434375
23andMers121434375
SNPshotrs121434375
SNPdbers121434375
MSV3drs121434375
GWAS Ctlgrs121434375
Max Magnitude0
OMIM608374
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121434375(T;T)
Alt rs121434375(T;T)
Reference Rs121434375(A;A)
Significance Pathogenic
Disease Hemochromatosis type 2A
Variation info
Gene HFE2
CLNDBN Hemochromatosis type 2A
Reversed 0
HGVS NC_000001.10:g.145415341A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002471.4,