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rs74315327

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315327(C;C)
Make rs74315327(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position146019530
GeneHFE2
is asnp
is mentioned by
dbSNPrs74315327
dbSNP (classic)rs74315327
ClinGenrs74315327
ebirs74315327
HLIrs74315327
Exacrs74315327
Gnomadrs74315327
Varsomers74315327
LitVarrs74315327
Maprs74315327
PheGenIrs74315327
Biobankrs74315327
1000 genomesrs74315327
hgdprs74315327
ensemblrs74315327
geneviewrs74315327
scholarrs74315327
googlers74315327
pharmgkbrs74315327
gwascentralrs74315327
openSNPrs74315327
23andMers74315327
SNPshotrs74315327
SNPdbers74315327
MSV3drs74315327
GWAS Ctlgrs74315327
Max Magnitude0
OMIM608374
Desc
Variant0006
Relatedalso
ClinVar
Risk rs74315327(C;C)
Alt rs74315327(C;C)
Reference Rs74315327(T;T)
Significance Pathogenic
Disease Hemochromatosis type 2A
Variation info
Gene HFE2
CLNDBN Hemochromatosis type 2A
Reversed 0
HGVS NC_000001.10:g.145415483T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002467.6,