chr9:27536399:C>T Detail (hg38) (C9orf72)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:27,536,397-27,536,397 View the variant detail on this assembly version. |
| hg38 | chr9:27,536,399-27,536,399 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.088 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2023-07-28 | no assertion criteria provided | autism spectrum disorder |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.366 | amyotrophic lateral sclerosis | Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in th... | BeFree | 24493373 | Detail |
| 0.003 | amyotrophic lateral sclerosis | Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in th... | BeFree | 24493373 | Detail |
| <0.001 | amyotrophic lateral sclerosis | In this analysis, two single nucleotide polymorphisms in a locus on chromosome 9... | BeFree | 20801717 | Detail |
| 0.003 | amyotrophic lateral sclerosis | [Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as suscept... | GAD | 19734901 | Detail |
| 0.176 | amyotrophic lateral sclerosis | [Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as suscept... | GAD | 19734901 | Detail |
| 0.005 | amyotrophic lateral sclerosis | [Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as suscept... | GAD | 19734901 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000009.12:g.27536399C>T AND Autism spectrum disorder | ClinVar | Detail |
| Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in the 9p21, rs12608932 i... | DisGeNET | Detail |
| Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in the 9p21, rs12608932 i... | DisGeNET | Detail |
| In this analysis, two single nucleotide polymorphisms in a locus on chromosome 9p21.2 were associate... | DisGeNET | Detail |
| [Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for spo... | DisGeNET | Detail |
| [Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for spo... | DisGeNET | Detail |
| [Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for spo... | DisGeNET | Detail |
- Gene
- -
- Genome
- hg38
- Position
- chr9:27,536,399-27,536,399
- 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))
- rs2814707
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0878
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1471
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser