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rs74315326

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315326(C;C)
Make rs74315326(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position146018516
GeneHFE2
is asnp
is mentioned by
dbSNPrs74315326
dbSNP (classic)rs74315326
ClinGenrs74315326
ebirs74315326
HLIrs74315326
Exacrs74315326
Gnomadrs74315326
Varsomers74315326
LitVarrs74315326
Maprs74315326
PheGenIrs74315326
Biobankrs74315326
1000 genomesrs74315326
hgdprs74315326
ensemblrs74315326
geneviewrs74315326
scholarrs74315326
googlers74315326
pharmgkbrs74315326
gwascentralrs74315326
openSNPrs74315326
23andMers74315326
SNPshotrs74315326
SNPdbers74315326
MSV3drs74315326
GWAS Ctlgrs74315326
Max Magnitude0
OMIM608374
Desc
Variant0004
Relatedalso
ClinVar
Risk rs74315326(C;C)
Alt rs74315326(C;C)
Reference Rs74315326(T;T)
Significance Pathogenic
Disease Hemochromatosis type 2A
Variation info
Gene HFE2
CLNDBN Hemochromatosis type 2A
Reversed 0
HGVS NC_000001.10:g.145416497T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002465.5,