chr12:72352543:T>C Detail (hg19) (TPH2)

Information

Genome

Assembly Position
hg19 chr12:72,352,543-72,352,543
hg38 chr12:71,958,763-71,958,763 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_173353.3:c.608+9108T>C
Ensemble ENST00000333850.4:c.608+9108T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.970
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 607478 OMIM
HGNC 20692 HGNC
Ensembl ENSG00000139287 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv46389310 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
0.020 panic disorder Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1... BeFree 18832011 Detail
0.011 Unipolar Depression In this study, we evaluated the association of seven serotonin signal transducti... BeFree 19590397 Detail
0.005 PANIC DISORDER 1 Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1... BeFree 18832011 Detail
0.155 major depressive disorder In this study, we evaluated the association of seven serotonin signal transducti... BeFree 19590397 Detail
0.002 PANIC DISORDER 1 Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1... BeFree 18832011 Detail
0.162 panic disorder Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1... BeFree 18832011 Detail
Annotation

Annotations

DescrptionSourceLinks
Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1019C-G, 5-HTR2A 102T... DisGeNET Detail
In this study, we evaluated the association of seven serotonin signal transduction-linked single nuc... DisGeNET Detail
Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1019C-G, 5-HTR2A 102T... DisGeNET Detail
In this study, we evaluated the association of seven serotonin signal transduction-linked single nuc... DisGeNET Detail
Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1019C-G, 5-HTR2A 102T... DisGeNET Detail
Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1019C-G, 5-HTR2A 102T... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1386494 dbSNP
Genome
hg19
Position
chr12:72,352,543-72,352,543
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1386494
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9705
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16266
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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