chr9:136505114:A>G Detail (hg19) (DBH)

Information

Genome

Assembly Position
hg19 chr9:136,505,114-136,505,114
hg38 chr9:133,639,992-133,639,992 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000787.3:c.486A>G NP_000778.3:p.Glu162=
Ensemble ENST00000393056.8:c.486A>G ENST00000393056.8:p.Glu162=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.121
ToMMo:0.134
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.128

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 tgv37884114 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts Orthostatic hypotension 1 germline Detail
Benign no assertion criteria provided not specified germline Detail
Benign 2021-05-04 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.329 attention deficit hyperactivity disorder Gene-gene interaction analysis revealed significant additive effect of DBH rs110... BeFree 21216270 Detail
0.178 attention deficit hyperactivity disorder Gene-gene interaction analysis revealed significant additive effect of DBH rs110... BeFree 21216270 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000787.4(DBH):c.486A>G (p.Glu162=) AND Orthostatic hypotension 1 ClinVar Detail
NM_000787.4(DBH):c.486A>G (p.Glu162=) AND not specified ClinVar Detail
NM_000787.4(DBH):c.486A>G (p.Glu162=) AND not provided ClinVar Detail
Gene-gene interaction analysis revealed significant additive effect of DBH rs1108580 and DRD4 rs1800... DisGeNET Detail
Gene-gene interaction analysis revealed significant additive effect of DBH rs1108580 and DRD4 rs1800... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1108580 dbSNP
Genome
hg19
Position
chr9:136,505,114-136,505,114
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1106
Mean of sample read depth (HGVD)
28.70
Standard deviation of sample read depth (HGVD)
15.30
Number of reference allele (HGVD)
1944
Number of alternative allele (HGVD)
268
Allele Frequency (HGVD)
0.12115732368896925
Gene Symbol (HGVD)
DBH
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))
rs1108580
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1338
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2242
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8604
East Asian Allele Counts (ExAC)
1104
East Asian Heterozygous Counts (ExAC)
972
East Asian Homozygous Counts (ExAC)
66
East Asian Allele Frequency (ExAC)
0.12831241283124128
Chromosome Counts in All Race (ExAC)
119876
Allele Counts in All Race (ExAC)
55127
Heterozygous Counts in All Race (ExAC)
27299
Homozygous Counts in All Race (ExAC)
13914
Allele Frequency in All Race (ExAC)
0.4598668624245053
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