chr11:64357072:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:64,357,072-64,357,072 |
| hg38 | chr11:64,589,600-64,589,600 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:0.827 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | Arthritis, Gouty | Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 i... | BeFree | 26290326 | Detail |
| <0.001 | Arthritis, Gouty | Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 i... | BeFree | 26290326 | Detail |
| <0.001 | Arthritis, Gouty | Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 i... | BeFree | 26290326 | Detail |
| 0.012 | hyperuricemia | The strongest association was detected at SLC22A12 rs505802 for uric acid (p=2.4... | BeFree | 23238572 | Detail |
| 0.014 | hyperuricemia | The strongest association was detected at SLC22A12 rs505802 for uric acid (p=2.4... | BeFree | 23238572 | Detail |
| 0.002 | Serum uric acid observed | [Meta-analysis of 28,141 individuals identifies common variants within five new ... | GAD | 19503597 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 in SLC17A1 and rs5058... | DisGeNET | Detail |
| Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 in SLC17A1 and rs5058... | DisGeNET | Detail |
| Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 in SLC17A1 and rs5058... | DisGeNET | Detail |
| The strongest association was detected at SLC22A12 rs505802 for uric acid (p=2.4×10(-50)) and ABCG2 ... | DisGeNET | Detail |
| The strongest association was detected at SLC22A12 rs505802 for uric acid (p=2.4×10(-50)) and ABCG2 ... | DisGeNET | Detail |
| [Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs505802 dbSNP
- Genome
- hg19
- Position
- chr11:64,357,072-64,357,072
- 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))
- rs505802
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8268
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13856
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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