chr13:46871568:G>A Detail (hg38) (HTR2A)

Information

Genome

Assembly Position
hg19 chr13:47,445,703-47,445,703 View the variant detail on this assembly version.
hg38 chr13:46,871,568-46,871,568

HGVS

Type Transcript Protein
RefSeq NM_000621.4:c.613+20822C>T
NM_001165947.2:c.124+20822C>T
Ensemble ENST00000542664.4:c.613+20822C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.267
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 tgv48541169 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 Drug abuse In suicide attempts, HTR2A variants (rs6561333, rs7997012 and rs1885884) were in... BeFree 19381154 Detail
Annotation

Annotations

DescrptionSourceLinks
In suicide attempts, HTR2A variants (rs6561333, rs7997012 and rs1885884) were involved through inter... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9316235 dbSNP
Genome
hg38
Position
chr13:46,871,568-46,871,568
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))
rs9316235
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2669
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4474
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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