chr6:132892332:G>A Detail (hg19) (TAAR6)

Information

Genome

Assembly Position
hg19 chr6:132,892,332-132,892,332
hg38 chr6:132,571,193-132,571,193 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_175067.1:c.872G>A NP_778237.1:p.Cys291Tyr
Ensemble ENST00000275198.1:c.872G>A ENST00000275198.1:p.Cys291Tyr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.015
ToMMo:0.015
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.010

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 608923 OMIM
HGNC 20978 HGNC
Ensembl ENSG00000146383 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27070420 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 Mental Depression In this study we investigated for the first time the possible association betwee... BeFree 20493543 Detail
0.006 bipolar disorder We have further studied a previously investigated sample of 187 major depressive... BeFree 19582769 Detail
Annotation

Annotations

DescrptionSourceLinks
In this study we investigated for the first time the possible association between a set of TAAR6 gen... DisGeNET Detail
We have further studied a previously investigated sample of 187 major depressive disorder (MDD) pati... 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
-
Genome
hg19
Position
chr6:132,892,332-132,892,332
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
164.56
Standard deviation of sample read depth (HGVD)
69.39
Number of reference allele (HGVD)
2383
Number of alternative allele (HGVD)
37
Allele Frequency (HGVD)
0.015289256198347107
Gene Symbol (HGVD)
TAAR6
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))
rs8192625
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.015
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
252
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8634
East Asian Allele Counts (ExAC)
83
East Asian Heterozygous Counts (ExAC)
81
East Asian Homozygous Counts (ExAC)
1
East Asian Allele Frequency (ExAC)
0.009613157285151726
Chromosome Counts in All Race (ExAC)
121352
Allele Counts in All Race (ExAC)
7831
Heterozygous Counts in All Race (ExAC)
7189
Homozygous Counts in All Race (ExAC)
321
Allele Frequency in All Race (ExAC)
0.06453128090183928
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