chr1:196941493:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:196,941,493-196,941,493 |
| hg38 | chr1:196,972,363-196,972,363 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.839 | |
| 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 |
|---|---|---|---|---|---|
| 0.319 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
| 0.480 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
| 0.021 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
| 0.005 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
| 0.007 | age related macular degeneration | NA | GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
| Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
| Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
| Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs6667243 dbSNP
- Genome
- hg19
- Position
- chr1:196,941,493-196,941,493
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs6667243
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8392
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14065
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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