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rs6356

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs6356(A;A)
Make rs6356(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2169721
GeneTH
is asnp
is mentioned by
dbSNPrs6356
ebirs6356
HLIrs6356
Exacrs6356
Varsomers6356
Maprs6356
PheGenIrs6356
hapmaprs6356
1000 genomesrs6356
hgdprs6356
ensemblrs6356
gopubmedrs6356
geneviewrs6356
scholarrs6356
googlers6356
pharmgkbrs6356
gwascentralrs6356
openSNPrs6356
23andMers6356
23andMe allrs6356
SNP Nexus

SNPshotrs6356
SNPdbers6356
MSV3drs6356
GWAS Ctlgrs6356
GMAF0.4187
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 19221445] Tyrosine hydroxylase and DOPA decarboxylase gene variants in personality traits


[PMID 19772578OA-icon.png] Two-stage case-control association study of dopamine-related genes and migraine


ClinVar
Risk rs6356(A;A)
Alt rs6356(A;A)
Reference rs6356(G;G)
Significance Non-pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2190951C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000021078.1,



[PMID 15077008] Nicotine dependence in a prospective population-based study of adolescents: the protective role of a functional tyrosine hydroxylase polymorphism.

[PMID 17717598OA-icon.png] Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk.

[PMID 17948905] Dopa decarboxylase and tyrosine hydroxylase gene variants in suicidal behavior.

[PMID 18208403] A functional intronic variant in the tyrosine hydroxylase (TH) gene confers risk of essential hypertension in the Northern Chinese Han population.

[PMID 19693267OA-icon.png] Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.

[PMID 19956101OA-icon.png] Overview of the Rapid Response data.

[PMID 19956106OA-icon.png] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

[PMID 20016224] Dopaminergic pathway gene polymorphisms and genetic susceptibility to schizophrenia among north Indians.

[PMID 7789962] Frequent sequence variant in the human tyrosine hydroxylase gene.

[PMID 9754624] Systematic search for variations in the tyrosine hydroxylase gene and their associations with schizophrenia, affective disorders, and alcoholism.


GET Evidence
TH-V112M
aa_change Val112Met
aa_change_short V112M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.359375
summary



[PMID 22560290] A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain.