chr13:47447236:G>A Detail (hg19) (HTR2A)

Information

Genome

Assembly Position
hg19 chr13:47,447,236-47,447,236
hg38 chr13:46,873,101-46,873,101 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001165947.2:c.124+19289C>T
NM_000621.4:c.613+19289C>T
Ensemble ENST00000543956.5:c.124+19289C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.688
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 182135 OMIM
HGNC 5293 HGNC
Ensembl ENSG00000102468 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv48541202 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 Single major depressive episode Two serotonin 2A receptor (HTR2A) SNPs recently reported to be associated with a... BeFree 19758789 Detail
Annotation

Annotations

DescrptionSourceLinks
Two serotonin 2A receptor (HTR2A) SNPs recently reported to be associated with antidepressant treatm... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1928040 dbSNP
Genome
hg19
Position
chr13:47,447,236-47,447,236
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))
rs1928040
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6883
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11536
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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