chr11:18026269:G>T Detail (hg38) (TPH1)

Information

Genome

Assembly Position
hg19 chr11:18,047,816-18,047,816 View the variant detail on this assembly version.
hg38 chr11:18,026,269-18,026,269

HGVS

Type Transcript Protein
RefSeq NM_004179.2:c.803+221C>A
Ensemble ENST00000250018.6:c.803+221C>A
ENST00000528338.2:c.833+221C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.488
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 191060 OMIM
HGNC 12008 HGNC
Ensembl ENSG00000129167 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41783602 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.011 Unipolar Depression In this study, we evaluated the association of seven serotonin signal transducti... BeFree 19590397 Detail
0.155 major depressive disorder In this study, we evaluated the association of seven serotonin signal transducti... BeFree 19590397 Detail
0.004 borderline personality disorder [The tryptophan hydroxylase-1 A218C polymorphism is associated with diagnosis, b... GAD 18506706 Detail
0.017 Mood Disorders Three hundred and ninety-eight patients diagnosed with mood disorders were genot... BeFree 21989108 Detail
0.031 major depressive disorder Our aim was to assess the association of TPH1 A218C polymorphism (rs1800532) wit... BeFree 21601290 Detail
0.031 major depressive disorder The A allele at TPH1 rs1800532 may be associated with citalopram efficacy only i... BeFree 23221997 Detail
0.002 Mental disorders Three hundred and ninety-eight patients diagnosed with mood disorders were genot... BeFree 21989108 Detail
0.005 Unipolar Depression The A allele at TPH1 rs1800532 may be associated with citalopram efficacy only i... BeFree 23221997 Detail
0.001 Ichthyosis bullosa of Siemens However, TPH1 gene SNPs were associated with IBS-related cognitions (rs4537731 a... BeFree 23172723 Detail
0.005 Unipolar Depression Our aim was to assess the association of TPH1 A218C polymorphism (rs1800532) wit... BeFree 21601290 Detail
<0.001 Drug habituation According to this practical and scientific demand, we aimed to investigate the r... BeFree 20421849 Detail
Annotation

Annotations

DescrptionSourceLinks
In this study, we evaluated the association of seven serotonin signal transduction-linked single nuc... DisGeNET Detail
In this study, we evaluated the association of seven serotonin signal transduction-linked single nuc... DisGeNET Detail
[The tryptophan hydroxylase-1 A218C polymorphism is associated with diagnosis, but not suicidal beha... DisGeNET Detail
Three hundred and ninety-eight patients diagnosed with mood disorders were genotyped for TPH1 G-6526... DisGeNET Detail
Our aim was to assess the association of TPH1 A218C polymorphism (rs1800532) with mood disorders, in... DisGeNET Detail
The A allele at TPH1 rs1800532 may be associated with citalopram efficacy only in melancholic and ps... DisGeNET Detail
Three hundred and ninety-eight patients diagnosed with mood disorders were genotyped for TPH1 G-6526... DisGeNET Detail
The A allele at TPH1 rs1800532 may be associated with citalopram efficacy only in melancholic and ps... DisGeNET Detail
However, TPH1 gene SNPs were associated with IBS-related cognitions (rs4537731 and rs21105) and qual... DisGeNET Detail
Our aim was to assess the association of TPH1 A218C polymorphism (rs1800532) with mood disorders, in... DisGeNET Detail
According to this practical and scientific demand, we aimed to investigate the relationship between ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1800532 dbSNP
Genome
hg38
Position
chr11:18,026,269-18,026,269
Variant Type
snv
Reference Allele
G
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1800532
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4885
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8186
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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