chr1:109275908:C>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:109,818,530-109,818,530 View the variant detail on this assembly version. |
| hg38 | chr1:109,275,908-109,275,908 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.930 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.138 | Carotid Artery Diseases | We found that two loci, chromosome 1p13.3 near CELSR2 and PSRC1 which contains r... | BeFree | 19951432 | Detail |
| 0.018 | Neurodegenerative Disorders | To assess the influence of rs5848 and rs646776 polymorphisms in both serum GRN l... | BeFree | 23398167 | Detail |
| 0.001 | Mild cognitive disorder | To assess the influence of rs5848 and rs646776 polymorphisms in both serum GRN l... | BeFree | 23398167 | Detail |
| 0.125 | myocardial infarction | Genome-wide association of early-onset myocardial infarction with single nucleot... | GWASCAT | 19198609 | Detail |
| 0.133 | coronary artery disease | [A genome-wide association study in Europeans and South Asians identifies five n... | GAD | 21378988 | Detail |
| 0.002 | Frontotemporal Lobar Degeneration | [, we identified significant association of a locus on chromosome 1p13.] | GAD | 21087763 | Detail |
| 0.125 | myocardial infarction | [Genome-wide association of early-onset myocardial infarction with single nucleo... | GAD | 19198609 | Detail |
| 0.133 | coronary artery disease | Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and asso... | GWASCAT | 21239051 | Detail |
| 0.126 | Coronary heart disease | A genome-wide association study in Europeans and South Asians identifies five ne... | GWASCAT | 21378988 | Detail |
| 0.126 | Coronary heart disease | Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... | BeFree | 22152955 | Detail |
| 0.025 | Coronary heart disease | Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... | BeFree | 22152955 | Detail |
| 0.004 | Coronary heart disease | Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... | BeFree | 22152955 | Detail |
| 0.128 | Coronary heart disease | Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... | BeFree | 22152955 | Detail |
| 0.016 | Coronary heart disease | Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... | BeFree | 22152955 | Detail |
| 0.127 | Coronary heart disease | Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... | BeFree | 22152955 | Detail |
| 0.126 | Coronary heart disease | Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1... | BeFree | 22152955 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We found that two loci, chromosome 1p13.3 near CELSR2 and PSRC1 which contains rs646776, and 19q13.2... | DisGeNET | Detail |
| To assess the influence of rs5848 and rs646776 polymorphisms in both serum GRN level and risk for co... | DisGeNET | Detail |
| To assess the influence of rs5848 and rs646776 polymorphisms in both serum GRN level and risk for co... | DisGeNET | Detail |
| Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms an... | DisGeNET | Detail |
| [A genome-wide association study in Europeans and South Asians identifies five new loci for coronary... | DisGeNET | Detail |
| [, we identified significant association of a locus on chromosome 1p13.] | DisGeNET | Detail |
| [Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms a... | DisGeNET | Detail |
| Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with ... | DisGeNET | Detail |
| A genome-wide association study in Europeans and South Asians identifies five new loci for coronary ... | DisGeNET | Detail |
| Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... | DisGeNET | Detail |
| Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... | DisGeNET | Detail |
| Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... | DisGeNET | Detail |
| Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... | DisGeNET | Detail |
| Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... | DisGeNET | Detail |
| Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... | DisGeNET | Detail |
| Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs646776 dbSNP
- Genome
- hg38
- Position
- chr1:109,275,908-109,275,908
- 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))
- rs646776
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9302
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 15590
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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