chr13:46837850:A>G Detail (hg38) (HTR2A)

Information

Genome

Assembly Position
hg19 chr13:47,411,985-47,411,985 View the variant detail on this assembly version.
hg38 chr13:46,837,850-46,837,850

HGVS

Type Transcript Protein
RefSeq NM_000621.4:c.614-2211T>C
NM_001165947.2:c.125-2211T>C
Ensemble ENST00000542664.4:c.614-2211T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.827
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
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 tgv48540571 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2006-05-01 no assertion criteria provided Major depressive disorder, response to citalopram therapy in germline Detail
Benign 2018-03-09 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.011 Unipolar Depression In this study, we evaluated the association of seven serotonin signal transducti... BeFree 19590397 Detail
0.155 major depressive disorder In this study, we evaluated the association of seven serotonin signal transducti... BeFree 19590397 Detail
<0.001 Drug abuse In suicide attempts, HTR2A variants (rs6561333, rs7997012 and rs1885884) were in... BeFree 19381154 Detail
<0.001 Single major depressive episode Two serotonin 2A receptor (HTR2A) SNPs recently reported to be associated with a... BeFree 19758789 Detail
0.155 major depressive disorder The 5HT2A receptor gene (HTR2A) polymorphisms rs7997012 and rs6311 have in some ... BeFree 21741447 Detail
0.011 Unipolar Depression The 5HT2A receptor gene (HTR2A) polymorphisms rs7997012 and rs6311 have in some ... BeFree 21741447 Detail
0.005 Anxiety Disorders We show for the first time a pharmacogenetic effect of the HTR2A rs7997012 varia... BeFree 22006095 Detail
0.088 depressive disorder The HTR2A-rs7997012 is worthy of further investigation in studies examining fact... BeFree 23537781 Detail
0.043 Mental Depression The HTR2A-rs7997012 is worthy of further investigation in studies examining fact... BeFree 23537781 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000621.5(HTR2A):c.614-2211T>C AND Major depressive disorder, response to citalopram therapy in ClinVar Detail
NM_000621.5(HTR2A):c.614-2211T>C AND not specified ClinVar Detail
In this study, we evaluated the association of seven serotonin signal transduction-linked single nuc... DisGeNET Detail
In this study, we evaluated the association of seven serotonin signal transduction-linked single nuc... DisGeNET Detail
In suicide attempts, HTR2A variants (rs6561333, rs7997012 and rs1885884) were involved through inter... DisGeNET Detail
Two serotonin 2A receptor (HTR2A) SNPs recently reported to be associated with antidepressant treatm... DisGeNET Detail
The 5HT2A receptor gene (HTR2A) polymorphisms rs7997012 and rs6311 have in some earlier studies been... DisGeNET Detail
The 5HT2A receptor gene (HTR2A) polymorphisms rs7997012 and rs6311 have in some earlier studies been... DisGeNET Detail
We show for the first time a pharmacogenetic effect of the HTR2A rs7997012 variant in anxiety disord... DisGeNET Detail
The HTR2A-rs7997012 is worthy of further investigation in studies examining factors that are related... DisGeNET Detail
The HTR2A-rs7997012 is worthy of further investigation in studies examining factors that are related... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7997012 dbSNP
Genome
hg38
Position
chr13:46,837,850-46,837,850
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs7997012
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8272
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13864
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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