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rs1800730

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 2.1 carrier for a mild form of hemochromatosis
(T;T) 2.6 affected by a mild form of hemochromatosis
ReferenceGRCh38 38.1/141
Chromosome6
Position26090957
GeneHFE
is asnp
is mentioned by
dbSNPrs1800730
ebirs1800730
HLIrs1800730
Exacrs1800730
Varsomers1800730
Maprs1800730
PheGenIrs1800730
hapmaprs1800730
1000 genomesrs1800730
hgdprs1800730
ensemblrs1800730
gopubmedrs1800730
geneviewrs1800730
scholarrs1800730
googlers1800730
pharmgkbrs1800730
gwascentralrs1800730
openSNPrs1800730
23andMers1800730
23andMe allrs1800730
SNP Nexus

SNPshotrs1800730
SNPdbers1800730
MSV3drs1800730
GWAS Ctlgrs1800730
Merged fromRs28934888
GMAF0.007346
Max Magnitude2.6

rs1800730, also known as S65C or Ser65Cys, is associated with a mild form of hemochromatosis [PMID 10194428]; in SNPedia, see also i3002468.

OMIM613609
Desc
Variant0003
Relatedalso


ClinVar
Risk rs1800730(T;T)
Alt rs1800730(T;T)
Reference rs1800730(A;A)
Significance Other
Disease Hemochromatosis type 1
Variation info
Gene HFE
CLNDBN Hemochromatosis type 1
Reversed 0
HGVS NC_000006.11:g.26091185A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000028.5,



[PMID 23418762] Hereditary hemochromatosis


[PMID 23792061] Meta-analyses of HFE variants in coronary heart disease