chr16:55735912:C>T Detail (hg19) (SLC6A2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:55,735,912-55,735,912 |
hg38 | chr16:55,702,000-55,702,000 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001172504.1:c.1830+66C>T | |
NM_001043.3:c.1830+66C>T | ||
NM_001172502.1:c.1515+66C>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.618 | |
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 |
---|---|---|---|---|---|
0.029 | attention deficit hyperactivity disorder | SNAP-25 (rs3746544) polymorphism was associated with loading for ADHD, while 5-H... | BeFree | 23872233 | Detail |
0.001 | attention deficit hyperactivity disorder | Our findings suggest that a combination of NET1 (rs2242447) and SNAP-25 (rs37465... | BeFree | 23872233 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
SNAP-25 (rs3746544) polymorphism was associated with loading for ADHD, while 5-HT2A (rs6311) and NET... | DisGeNET | Detail |
Our findings suggest that a combination of NET1 (rs2242447) and SNAP-25 (rs3746544) is a risk factor... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs2242447 dbSNP
- Genome
- hg19
- Position
- chr16:55,735,912-55,735,912
- 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))
- rs2242447
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6184
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10365
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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