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rs74315325

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315325(A;A)
Make rs74315325(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position146018693
GeneHFE2
is asnp
is mentioned by
dbSNPrs74315325
dbSNP (classic)rs74315325
ClinGenrs74315325
ebirs74315325
HLIrs74315325
Exacrs74315325
Gnomadrs74315325
Varsomers74315325
LitVarrs74315325
Maprs74315325
PheGenIrs74315325
Biobankrs74315325
1000 genomesrs74315325
hgdprs74315325
ensemblrs74315325
geneviewrs74315325
scholarrs74315325
googlers74315325
pharmgkbrs74315325
gwascentralrs74315325
openSNPrs74315325
23andMers74315325
SNPshotrs74315325
SNPdbers74315325
MSV3drs74315325
GWAS Ctlgrs74315325
Max Magnitude0
OMIM608374
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74315325(A;A)
Alt rs74315325(A;A)
Reference Rs74315325(T;T)
Significance Pathogenic
Disease Hemochromatosis type 2A
Variation info
Gene HFE2
CLNDBN Hemochromatosis type 2A
Reversed 0
HGVS NC_000001.10:g.145416320T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002464.5,