chr15:78565520:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:78,857,862-78,887,611 |
| hg38 | chr15:78,565,520-78,595,269 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | squamous cell carcinoma | NA | GAD | Detail | |
| 0.127 | Chronic Obstructive Airway Disease | The CHRNA5-CHRNA3-CHRNB4 locus is associated with self-reported smoking behavior... | BeFree,GAD,GWASCAT | 25072098 | Detail |
| 0.127 | Chronic Obstructive Airway Disease | Recently, variants in the hypoxia-inducible factor 1α (HIF1A), cholinergic recep... | BeFree,GAD,GWASCAT | 25565795 | Detail |
| 0.127 | Chronic Obstructive Airway Disease | Exon sequencing identifies a novel CHRNA3-CHRNA5-CHRNB4 variant that increases t... | BeFree,GAD,GWASCAT | 25891420 | Detail |
| 0.135 | Lung Neoplasms | NA | CTD_human,GAD,LHGDN | Detail | |
| 0.002 | Marijuana Abuse | NA | GAD | Detail | |
| 0.012 | Carcinoma of lung | The functional A variant of rs1696698 in CHRNA5 had the strongest association wi... | BeFree | 20554942 | Detail |
| 0.060 | Malignant neoplasm of lung | The functional A variant of rs1696698 in CHRNA5 had the strongest association wi... | BeFree | 20554942 | Detail |
| 0.003 | Adenocarcinoma of lung (disorder) | The carrier status of the 398N allele at the D398N polymorphism of the CHRNA5 ge... | BeFree | 19223495 | Detail |
| 0.003 | Adenocarcinoma of lung (disorder) | CHRNA5 gene D398N polymorphism in Japanese lung adenocarcinoma. | BeFree | 19577767 | Detail |
| 0.007 | adenocarcinoma | In addition, the same D398N variation correlated with CHRNA5 mRNA levels in norm... | BeFree | 19223495 | Detail |
| <0.001 | myocardial infarction | Among patients who have smoked and who are hospitalized with acute MI, the high-... | BeFree | 24727484 | Detail |
| 0.002 | narcolepsy | NA | GAD | Detail | |
| 0.002 | Opioid-Related Disorders | NA | GAD | Detail | |
| <0.001 | obesity | NA | BeFree | Detail | |
| 0.003 | schizophrenia | NA | BeFree,GAD | Detail | |
| 0.120 | Seizures | NA | CTD_human | Detail | |
| 0.120 | Substance Withdrawal Syndrome | NA | CTD_human | Detail | |
| <0.001 | Tobacco Dependence | NA | BeFree | Detail | |
| 0.165 | Tobacco use disorder | NA | CTD_human,GAD | Detail | |
| 0.002 | Weight Gain | NA | GAD | Detail | |
| 0.003 | Adenocarcinoma of lung (disorder) | Results show that nicotine dependence is a mediator of the association between l... | BeFree,GAD | 25233467 | Detail |
| <0.001 | acute myocardial infarction | CHRNA5 variant predicts smoking cessation in patients with acute myocardial infa... | BeFree | 24727484 | Detail |
| 0.005 | Cocaine-Related Disorders | NA | GAD | Detail | |
| 0.122 | Substance-Related Disorders | NA | CTD_human,GAD | Detail | |
| <0.001 | Alcohol or Other Drugs use | NA | BeFree | Detail | |
| <0.001 | Psoriasis vulgaris | An association study on the CHRNA5/A3/B4 gene cluster, smoking and psoriasis vul... | BeFree | 25297392 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | NA | BeFree | Detail | |
| 0.012 | Carcinoma of lung | However, no studies have investigated the association between CHRNA5 rs3841324, ... | BeFree | 25329654 | Detail |
| 0.060 | Malignant neoplasm of lung | However, no studies have investigated the association between CHRNA5 rs3841324, ... | BeFree | 25329654 | Detail |
| <0.001 | Nasopharyngeal carcinoma | We found that individuals with CHRNA5 rs3841324 combined variant genotypes (ins/... | BeFree | 25329654 | Detail |
| <0.001 | cocaine dependence | NA | BeFree | Detail | |
| <0.001 | multiple pathologies | NA | BeFree | Detail | |
| <0.001 | Paranoia | NA | BeFree | Detail | |
| <0.001 | NEUROTICISM | NA | BeFree | Detail | |
| 0.120 | TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) | NA | CTD_human | Detail | |
| 0.002 | Weight Gain Adverse Event | NA | GAD | Detail | |
| <0.001 | Nasopharyngeal carcinoma | We found that individuals with CHRNA5 rs3841324 combined variant genotypes (ins/... | BeFree | 25329654 | Detail |
| 0.007 | adenocarcinoma | NA | BeFree,GAD | Detail | |
| <0.001 | alcohol use disorder | NA | BeFree | Detail | |
| 0.133 | Alcoholic Intoxication, Chronic | NA | BeFree,CTD_human,GAD | Detail | |
| 0.120 | Anxiety Disorders | NA | CTD_human | Detail | |
| <0.001 | cannabis abuse | Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy... | BeFree | 25770649 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| The CHRNA5-CHRNA3-CHRNB4 locus is associated with self-reported smoking behavior and also harbors th... | DisGeNET | Detail |
| Recently, variants in the hypoxia-inducible factor 1α (HIF1A), cholinergic receptor, neuronal nicoti... | DisGeNET | Detail |
| Exon sequencing identifies a novel CHRNA3-CHRNA5-CHRNB4 variant that increases the risk for chronic ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The functional A variant of rs1696698 in CHRNA5 had the strongest association with lung cancer (OR =... | DisGeNET | Detail |
| The functional A variant of rs1696698 in CHRNA5 had the strongest association with lung cancer (OR =... | DisGeNET | Detail |
| The carrier status of the 398N allele at the D398N polymorphism of the CHRNA5 gene was associated wi... | DisGeNET | Detail |
| CHRNA5 gene D398N polymorphism in Japanese lung adenocarcinoma. | DisGeNET | Detail |
| In addition, the same D398N variation correlated with CHRNA5 mRNA levels in normal lung of adenocarc... | DisGeNET | Detail |
| Among patients who have smoked and who are hospitalized with acute MI, the high-risk CHRNA5 allele w... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Results show that nicotine dependence is a mediator of the association between lung adenocarcinoma a... | DisGeNET | Detail |
| CHRNA5 variant predicts smoking cessation in patients with acute myocardial infarction. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| An association study on the CHRNA5/A3/B4 gene cluster, smoking and psoriasis vulgaris. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| However, no studies have investigated the association between CHRNA5 rs3841324, which has been prove... | DisGeNET | Detail |
| However, no studies have investigated the association between CHRNA5 rs3841324, which has been prove... | DisGeNET | Detail |
| We found that individuals with CHRNA5 rs3841324 combined variant genotypes (ins/del+del/del) had a &... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We found that individuals with CHRNA5 rs3841324 combined variant genotypes (ins/del+del/del) had a >... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy for rs13280604 in C... | 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
- rs1696698 dbSNP
- Genome
- hg38
- Position
- chr15:78,565,520-78,595,269
- Variant Type
- snv
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