chr9:136509634:T>C Detail (hg19) (DBH)

Information

Genome

Assembly Position
hg19 chr9:136,509,634-136,509,634
hg38 chr9:133,644,512-133,644,512 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000787.3:c.1024+192T>C
Ensemble ENST00000393056.8:c.1024+192T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.155
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 609312 OMIM
HGNC 2689 HGNC
Ensembl ENSG00000123454 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37884435 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-05-11 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Substance Use Disorders Compared to controls, ADHD patients (with and without SUDs) showed significantly... BeFree 22841130 Detail
<0.001 Substance Use Disorders Compared to controls, ADHD patients (with and without SUDs) showed significantly... BeFree 22841130 Detail
0.025 schizophrenia Association was also evaluated by considering the polymorphisms as interactions;... BeFree 22940547 Detail
0.006 schizophrenia Association was also evaluated by considering the polymorphisms as interactions;... BeFree 22940547 Detail
0.264 schizophrenia Association was also evaluated by considering the polymorphisms as interactions;... BeFree 22940547 Detail
0.098 schizophrenia Association was also evaluated by considering the polymorphisms as interactions;... BeFree 22940547 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000787.4(DBH):c.1024+192T>C AND not provided ClinVar Detail
Compared to controls, ADHD patients (with and without SUDs) showed significantly increased frequency... DisGeNET Detail
Compared to controls, ADHD patients (with and without SUDs) showed significantly increased frequency... DisGeNET Detail
Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... DisGeNET Detail
Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... DisGeNET Detail
Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... DisGeNET Detail
Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2519152 dbSNP
Genome
hg19
Position
chr9:136,509,634-136,509,634
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))
rs2519152
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1551
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2599
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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