chr20:10306436:G>T Detail (hg38) (SNAP25)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr20:10,287,084-10,287,084 View the variant detail on this assembly version. |
hg38 | chr20:10,306,436-10,306,436 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001322903.1:c.*239G>T | |
NM_001322904.1:c.*239G>T | ||
NM_001322905.1:c.*239G>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.726 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.025 | schizophrenia | Association was also evaluated by considering the polymorphisms as interactions;... | BeFree | 22940547 | Detail |
0.006 | schizophrenia | Association was also evaluated by considering the polymorphisms as interactions;... | BeFree | 22940547 | Detail |
0.264 | schizophrenia | Association was also evaluated by considering the polymorphisms as interactions;... | BeFree | 22940547 | Detail |
0.098 | schizophrenia | Association was also evaluated by considering the polymorphisms as interactions;... | BeFree | 22940547 | Detail |
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 |
0.047 | attention deficit hyperactivity disorder | [Further, significant heterogeneity was observed for the associations between AD... | GAD | 19506906 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_130811.4(SNAP25):c.*239G>T AND Congenital myasthenic syndrome 18 | ClinVar | Detail |
NM_130811.4(SNAP25):c.*239G>T AND not provided | ClinVar | Detail |
Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... | DisGeNET | Detail |
Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... | DisGeNET | Detail |
Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... | DisGeNET | Detail |
Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... | DisGeNET | Detail |
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 |
[Further, significant heterogeneity was observed for the associations between ADHD and DAT1, DRD4, D... | 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
- rs3746544 dbSNP
- Genome
- hg38
- Position
- chr20:10,306,436-10,306,436
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs3746544
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7264
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12174
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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