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rs11558538

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs11558538(C;T)
Make rs11558538(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position138002079
GeneHNMT
is asnp
is mentioned by
dbSNPrs11558538
ebirs11558538
HLIrs11558538
Exacrs11558538
Varsomers11558538
Maprs11558538
PheGenIrs11558538
hapmaprs11558538
1000 genomesrs11558538
hgdprs11558538
ensemblrs11558538
gopubmedrs11558538
geneviewrs11558538
scholarrs11558538
googlers11558538
pharmgkbrs11558538
gwascentralrs11558538
openSNPrs11558538
23andMers11558538
23andMe allrs11558538
SNP Nexus

SNPshotrs11558538
SNPdbers11558538
MSV3drs11558538
GWAS Ctlgrs11558538
Merged fromRs1801105
GMAF0.05601
Max Magnitude0

[PMID 19773194OA-icon.png] Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor

OMIM605238
Desc
Variant0001
Relatedalso
? (C;C) (C;T) (T;T)
ClinVar
Risk rs11558538(T;T)
Alt rs11558538(T;T)
Reference rs11558538(C;C)
Significance Other
Disease Asthma
Variation info
Gene HNMT
CLNDBN Asthma, susceptibility to
Reversed 0
HGVS NC_000002.11:g.138759649C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005467.2,


GET Evidence
HNMT-T105I
aa_change Thr105Ile
aa_change_short T105I
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.076966
summary Initial reports implicated this in causing increased susceptibility to asthma, but later reports contradict this. The variant does not appear to be significantly pathogenic, despite computational and experimental evidence that the variant affects enzyme activity.



[PMID 27399132] Thr105Ile (rs11558538) polymorphism in the histamine N-methyltransferase (HNMT) gene and risk for Parkinson disease: A PRISMA-compliant systematic review and meta-analysis.


[PMID 27837280] Thr105Ile (rs11558538) polymorphism in the histamine-1-methyl-transferase (HNMT) gene and risk for restless legs syndrome.