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rs28940586

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28940586(C;C)
Make rs28940586(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position146019594
GeneHFE2
is asnp
is mentioned by
dbSNPrs28940586
ebirs28940586
HLIrs28940586
Exacrs28940586
Varsomers28940586
Maprs28940586
PheGenIrs28940586
hapmaprs28940586
1000 genomesrs28940586
hgdprs28940586
ensemblrs28940586
gopubmedrs28940586
geneviewrs28940586
scholarrs28940586
googlers28940586
pharmgkbrs28940586
gwascentralrs28940586
openSNPrs28940586
23andMers28940586
23andMe allrs28940586
SNP Nexus

SNPshotrs28940586
SNPdbers28940586
MSV3drs28940586
GWAS Ctlgrs28940586
Max Magnitude0
OMIM608374
DescHEMOCHROMATOSIS, TYPE 2A
Variant0005
Relatedalso


ClinVar
Risk rs28940586(C,G;C,G)
Alt rs28940586(C,G;C,G)
Reference rs28940586(T;T)
Significance Pathogenic
Disease Hemochromatosis type 2A
Variation info
Gene HFE2
CLNDBN Hemochromatosis type 2A
Reversed 0
HGVS NC_000001.10:g.145415419T>C; NC_000001.10:g.145415419T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002466.3, RCV000198971.1,