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rs74315324

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315324(C;T)
Make rs74315324(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position146018382
GeneHFE2
is asnp
is mentioned by
dbSNPrs74315324
dbSNP (classic)rs74315324
ClinGenrs74315324
ebirs74315324
HLIrs74315324
Exacrs74315324
Gnomadrs74315324
Varsomers74315324
LitVarrs74315324
Maprs74315324
PheGenIrs74315324
Biobankrs74315324
1000 genomesrs74315324
hgdprs74315324
ensemblrs74315324
geneviewrs74315324
scholarrs74315324
googlers74315324
pharmgkbrs74315324
gwascentralrs74315324
openSNPrs74315324
23andMers74315324
SNPshotrs74315324
SNPdbers74315324
MSV3drs74315324
GWAS Ctlgrs74315324
Max Magnitude0
OMIM608374
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315324(T;T)
Alt rs74315324(T;T)
Reference Rs74315324(C;C)
Significance Pathogenic
Disease Hemochromatosis type 2A
Variation info
Gene HFE2
CLNDBN Hemochromatosis type 2A
Reversed 0
HGVS NC_000001.10:g.145416631C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002463.5,