chr6:78172260:C>G Detail (hg19) (HTR1B)

Information

Genome

Assembly Position
hg19 chr6:78,172,260-78,172,260
hg38 chr6:77,462,543-77,462,543 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000863.2:c.861G>C NP_000854.1:p.Val287=
Ensemble ENST00000369947.5:c.861G>C ENST00000369947.5:p.Val287=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.455
ToMMo:0.448
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.487

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 182131 OMIM
HGNC 5287 HGNC
Ensembl ENSG00000135312 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv25895231 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
<0.001 Headache Gene polymorphisms including serotonin (5-HT)(1B) receptor G861C and dopamine re... BeFree 21822697 Detail
0.001 Headache Gene polymorphisms including serotonin (5-HT)(1B) receptor G861C and dopamine re... BeFree 21822697 Detail
0.003 Mood Disorders Two common genetic polymorphisms of 5-HT(1B) receptors, G861C and C129T, have be... BeFree 19702551 Detail
<0.001 Single major depressive episode Exploratory analyses indicated an association of the genotype and allele frequen... BeFree 12496953 Detail
<0.001 PANIC DISORDER 1 In the present case-control study we investigated possible associations between ... BeFree 15670397 Detail
0.215 Alcoholic Intoxication, Chronic Our study suggests that neither the 5-HTTLPR gene nor the 5-HT1B G861C polymorph... BeFree 22550993 Detail
0.005 PANIC DISORDER 1 In the present case-control study we investigated possible associations between ... BeFree 15670397 Detail
0.004 major depressive disorder Substance abuse disorder and major depression are associated with the human 5-HT... BeFree 12496953 Detail
0.003 panic disorder In the present case-control study we investigated possible associations between ... BeFree 15670397 Detail
0.024 attention deficit hyperactivity disorder [Candidate gene studies of ADHD: a meta-analytic review.] GAD 19506906 Detail
0.001 Headache Allele frequencies of two polymorphisms in the 5-HT1B receptor gene (G861C and T... BeFree 9595868 Detail
0.045 panic disorder In the present case-control study we investigated possible associations between ... BeFree 15670397 Detail
0.008 Migraine Disorders Allele frequencies of two polymorphisms in the 5-HT1B receptor gene (G861C and T... BeFree 9595868 Detail
0.004 Unipolar Depression Substance abuse disorder and major depression are associated with the human 5-HT... BeFree 12496953 Detail
0.003 Substance abuse problem Substance abuse disorder and major depression are associated with the human 5-HT... BeFree 12496953 Detail
0.004 Antisocial behavior Our study suggests that neither the 5-HTTLPR gene nor the 5-HT1B G861C polymorph... BeFree 22550993 Detail
0.021 Alcoholic Intoxication, Chronic No significant association of the genotype or allele frequencies of the h5-HTR(1... BeFree 12496953 Detail
0.010 bipolar disorder Substance abuse disorder and major depression appear to be associated with the h... BeFree 12496953 Detail
Annotation

Annotations

DescrptionSourceLinks
Gene polymorphisms including serotonin (5-HT)(1B) receptor G861C and dopamine receptor 2 (DRD2) C939... DisGeNET Detail
Gene polymorphisms including serotonin (5-HT)(1B) receptor G861C and dopamine receptor 2 (DRD2) C939... DisGeNET Detail
Two common genetic polymorphisms of 5-HT(1B) receptors, G861C and C129T, have been implicated in aff... DisGeNET Detail
Exploratory analyses indicated an association of the genotype and allele frequencies of the h5-HTR(1... DisGeNET Detail
In the present case-control study we investigated possible associations between PD phenotype and fiv... DisGeNET Detail
Our study suggests that neither the 5-HTTLPR gene nor the 5-HT1B G861C polymorphism alone is a risk ... DisGeNET Detail
In the present case-control study we investigated possible associations between PD phenotype and fiv... DisGeNET Detail
Substance abuse disorder and major depression are associated with the human 5-HT1B receptor gene (HT... DisGeNET Detail
In the present case-control study we investigated possible associations between PD phenotype and fiv... DisGeNET Detail
[Candidate gene studies of ADHD: a meta-analytic review.] DisGeNET Detail
Allele frequencies of two polymorphisms in the 5-HT1B receptor gene (G861C and T-261G) were investig... DisGeNET Detail
In the present case-control study we investigated possible associations between PD phenotype and fiv... DisGeNET Detail
Allele frequencies of two polymorphisms in the 5-HT1B receptor gene (G861C and T-261G) were investig... DisGeNET Detail
Substance abuse disorder and major depression are associated with the human 5-HT1B receptor gene (HT... DisGeNET Detail
Substance abuse disorder and major depression are associated with the human 5-HT1B receptor gene (HT... DisGeNET Detail
Our study suggests that neither the 5-HTTLPR gene nor the 5-HT1B G861C polymorphism alone is a risk ... DisGeNET Detail
No significant association of the genotype or allele frequencies of the h5-HTR(1B) G861C locus was o... DisGeNET Detail
Substance abuse disorder and major depression appear to be associated with the h5-HTR(1B) G861C locu... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr6:78,172,260-78,172,260
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
113.77
Standard deviation of sample read depth (HGVD)
55.55
Number of reference allele (HGVD)
1318
Number of alternative allele (HGVD)
1102
Allele Frequency (HGVD)
0.4553719008264463
Gene Symbol (HGVD)
HTR1B
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))
rs6296
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4478
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7505
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8636
East Asian Allele Counts (ExAC)
4207
East Asian Heterozygous Counts (ExAC)
2211
East Asian Homozygous Counts (ExAC)
998
East Asian Allele Frequency (ExAC)
0.48714682723483094
Chromosome Counts in All Race (ExAC)
121256
Allele Counts in All Race (ExAC)
37155
Heterozygous Counts in All Race (ExAC)
24781
Homozygous Counts in All Race (ExAC)
6187
Allele Frequency in All Race (ExAC)
0.3064178267467177
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