chr11:113975284:T>C Detail (hg38) (HTR3A)

Information

Genome

Assembly Position
hg19 chr11:113,846,006-113,846,006 View the variant detail on this assembly version.
hg38 chr11:113,975,284-113,975,284

HGVS

Type Transcript Protein
RefSeq NM_213621.3:c.-24T>C
NM_000869.5:c.-24T>C
NR_046363.1:c.-24T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.879
ToMMo:0.883
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.872

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 182139 OMIM
HGNC 5297 HGNC
Ensembl ENSG00000166736 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44094053 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 MAJOR AFFECTIVE DISORDER 1 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
0.005 bipolar disorder Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 MAJOR AFFECTIVE DISORDER 5 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 MAJOR AFFECTIVE DISORDER 6 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 MAJOR AFFECTIVE DISORDER 9 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 MAJOR AFFECTIVE DISORDER 8 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 MAJOR AFFECTIVE DISORDER 4 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 Major affective disorder 7 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
<0.001 MAJOR AFFECTIVE DISORDER 2 Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs106... BeFree 22832903 Detail
Annotation

Annotations

DescrptionSourceLinks
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... DisGeNET Detail
Three single nucleotide polymorphisms (SNPs) in the HTR3A and HTR3B genes (rs1062613, rs1176744 and ... 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
hg38
Position
chr11:113,975,284-113,975,284
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
836
Mean of sample read depth (HGVD)
47.30
Standard deviation of sample read depth (HGVD)
21.63
Number of reference allele (HGVD)
202
Number of alternative allele (HGVD)
1470
Allele Frequency (HGVD)
0.8791866028708134
Gene Symbol (HGVD)
HTR3A
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))
rs1062613
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8835
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14806
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8370
East Asian Allele Counts (ExAC)
7302
East Asian Heterozygous Counts (ExAC)
942
East Asian Homozygous Counts (ExAC)
3180
East Asian Allele Frequency (ExAC)
0.8724014336917563
Chromosome Counts in All Race (ExAC)
115722
Allele Counts in All Race (ExAC)
92157
Heterozygous Counts in All Race (ExAC)
18819
Homozygous Counts in All Race (ExAC)
36669
Allele Frequency in All Race (ExAC)
0.7963654274900192
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