chr2:233397525:T>G Detail (hg19) (CHRND)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:233,397,525-233,397,525 |
| hg38 | chr2:232,532,815-232,532,815 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000751.2:c.1048-1116T>G | |
| NM_001256657.1:c.1003-1116T>G | ||
| NM_001311195.1:c.1003-1116T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.353 | |
| 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 | nicotine dependence | Here we test the hypothesis that the nicotinic receptor genes CHRNA5 (rs16969968... | BeFree | 20840187 | Detail |
| 0.006 | nicotine dependence | Here we test the hypothesis that the nicotinic receptor genes CHRNA5 (rs16969968... | BeFree | 20840187 | Detail |
| <0.001 | nicotine dependence | Here we test the hypothesis that the nicotinic receptor genes CHRNA5 (rs16969968... | BeFree | 20840187 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Here we test the hypothesis that the nicotinic receptor genes CHRNA5 (rs16969968), CHRNA3 (rs578776)... | DisGeNET | Detail |
| Here we test the hypothesis that the nicotinic receptor genes CHRNA5 (rs16969968), CHRNA3 (rs578776)... | DisGeNET | Detail |
| Here we test the hypothesis that the nicotinic receptor genes CHRNA5 (rs16969968), CHRNA3 (rs578776)... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs12466358 dbSNP
- Genome
- hg19
- Position
- chr2:233,397,525-233,397,525
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- 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))
- rs12466358
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3527
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5911
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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