chr12:27555837:C>T Detail (hg19) (BMAL2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:27,555,837-27,555,837 |
hg38 | chr12:27,402,904-27,402,904 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001248003.1:c.1366+227C>T | |
NM_001248004.1:c.1366+227C>T | ||
NM_001248005.1:c.1366+227C>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.647 | |
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 |
---|---|---|---|---|---|
<0.001 | alcohol use disorder | Concerning anxiety disorders and alcohol use disorders, the current findings are... | BeFree | 22538398 | Detail |
<0.001 | Phobia, Social | Single nucleotide polymorphisms in two genes showed some evidence for associatio... | BeFree | 20122683 | Detail |
<0.001 | Alcohol abuse | Concerning anxiety disorders and alcohol use disorders, the current findings are... | BeFree | 22538398 | Detail |
<0.001 | Phobia, Social | Concerning anxiety disorders and alcohol use disorders, the current findings are... | BeFree | 22538398 | Detail |
<0.001 | Phobia, Social | Single nucleotide polymorphisms in two genes showed some evidence for associatio... | BeFree | 20122683 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Concerning anxiety disorders and alcohol use disorders, the current findings are preliminary and nee... | DisGeNET | Detail |
Single nucleotide polymorphisms in two genes showed some evidence for association to social phobia: ... | DisGeNET | Detail |
Concerning anxiety disorders and alcohol use disorders, the current findings are preliminary and nee... | DisGeNET | Detail |
Concerning anxiety disorders and alcohol use disorders, the current findings are preliminary and nee... | DisGeNET | Detail |
Single nucleotide polymorphisms in two genes showed some evidence for association to social phobia: ... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs2306073 dbSNP
- Genome
- hg19
- Position
- chr12:27,555,837-27,555,837
- 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))
- rs2306073
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.647
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10844
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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