chr13:46892487:G>A Detail (hg38) (HTR2A)

Information

Genome

Assembly Position
hg19 chr13:47,466,622-47,466,622 View the variant detail on this assembly version.
hg38 chr13:46,892,487-46,892,487

HGVS

Type Transcript Protein
RefSeq NM_000621.4:c.516C>T NP_000612.1:p.Asp172=
NM_001165947.2:c.27C>T NP_001159419.1:p.Asp9=
Ensemble ENST00000542664.4:c.516C>T ENST00000542664.4:p.Asp172=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 182135 OMIM
HGNC 5293 HGNC
Ensembl ENSG00000102468 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv48541603 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
0.007 Unipolar Depression To explore the possible relationship between six single nucleotide polymorphisms... BeFree 22480177 Detail
0.012 major depressive disorder To explore the possible relationship between six single nucleotide polymorphisms... BeFree 22480177 Detail
0.011 Unipolar Depression To explore the possible relationship between six single nucleotide polymorphisms... BeFree 22480177 Detail
0.155 major depressive disorder To explore the possible relationship between six single nucleotide polymorphisms... BeFree 22480177 Detail
0.341 schizophrenia Association analysis between the C516T polymorphism in the 5-HT2A receptor gene ... BeFree 17420819 Detail
Annotation

Annotations

DescrptionSourceLinks
To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... DisGeNET Detail
To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... DisGeNET Detail
To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... DisGeNET Detail
To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... DisGeNET Detail
Association analysis between the C516T polymorphism in the 5-HT2A receptor gene and schizophrenia. 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
-
dbSNP
rs6305 dbSNP
Genome
hg38
Position
chr13:46,892,487-46,892,487
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs6305
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121412
Allele Counts in All Race (ExAC)
2153
Heterozygous Counts in All Race (ExAC)
2093
Homozygous Counts in All Race (ExAC)
30
Allele Frequency in All Race (ExAC)
0.017733008269363817
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