chr15:78898723:C>T Detail (hg19) (CHRNA3)

Information

Genome

Assembly Position
hg19 chr15:78,898,723-78,898,723
hg38 chr15:78,606,381-78,606,381 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000743.4:c.378-4117G>A
NM_001166694.1:c.378-4117G>A
Ensemble ENST00000326828.6:c.378-4117G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.289
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 118503 OMIM
HGNC 1957 HGNC
Ensembl ENSG00000080644 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53653338 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
0.129 Chronic Obstructive Airway Disease IREB2 and GALC are associated with pulmonary artery enlargement in chronic obstr... GWASCAT 25101718 Detail
0.129 Chronic Obstructive Airway Disease Analysis of 6633 individuals with moderate to severe COPD and 5704 control indiv... GWASCAT 24621683 Detail
0.120 Bronchitis, Chronic Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary d... GWASCAT 25241909 Detail
<0.001 Smoker's lung To examine if variation at any of these loci influences the risk of lung cancer ... BeFree 19955392 Detail
0.129 Chronic Obstructive Airway Disease Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary d... GWASCAT 25241909 Detail
0.120 Pulmonary function (finding) Genome-wide association and large-scale follow up identifies 16 new loci influen... GWASCAT 21946350 Detail
Annotation

Annotations

DescrptionSourceLinks
IREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary dis... DisGeNET Detail
Analysis of 6633 individuals with moderate to severe COPD and 5704 control individuals confirmed ass... DisGeNET Detail
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. DisGeNET Detail
To examine if variation at any of these loci influences the risk of lung cancer in never-smokers, we... DisGeNET Detail
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. DisGeNET Detail
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12914385 dbSNP
Genome
hg19
Position
chr15:78,898,723-78,898,723
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs12914385
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2894
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4851
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser