chr15:78593646:T>C Detail (hg38) (CHRNA3, CHRNA5)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr15:78,885,988-78,885,988 View the variant detail on this assembly version. |
hg38 | chr15:78,593,646-78,593,646 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001166694.1:c.1390-455A>G | |
Ensemble | ENST00000348639.7:c.1390-455A>G |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000745.3:c.*393T>C | |
Ensemble | ENST00000299565.9:c.*393T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.876 | |
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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.133 | Alcoholic Intoxication, Chronic | We also observed two SNPs associated with alcohol dependence, that is, rs615470 ... | BeFree | 20485328 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
We also observed two SNPs associated with alcohol dependence, that is, rs615470 in CHRNA5 (OR=0.77, ... | 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
- rs615470 dbSNP
- Genome
- hg38
- Position
- chr15:78,593,646-78,593,646
- 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))
- rs615470
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8764
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14689
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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