chr18:60246201:G>A Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:57,913,434-57,913,434 View the variant detail on this assembly version. |
| hg38 | chr18:60,246,201-60,246,201 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.136 | |
| 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 |
|---|---|---|---|---|---|
| 0.029 | Diabetes Mellitus, Non-Insulin-Dependent | We examined rs17782313, rs17700633, rs12970134, rs477181, rs502933, and rs445050... | BeFree | 19073769 | Detail |
| 0.004 | obesity | Here, we evaluated the association of two variants (rs12970134 and rs4450508) ne... | BeFree | 19680233 | Detail |
| 0.029 | Diabetes Mellitus, Non-Insulin-Dependent | Here, we evaluated the association of two variants (rs12970134 and rs4450508) ne... | BeFree | 19680233 | Detail |
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | Here, we evaluated the association of two variants (rs12970134 and rs4450508) ne... | BeFree | 19680233 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We examined rs17782313, rs17700633, rs12970134, rs477181, rs502933, and rs4450508 near MC4R for asso... | DisGeNET | Detail |
| Here, we evaluated the association of two variants (rs12970134 and rs4450508) near MC4R and a nonsyn... | DisGeNET | Detail |
| Here, we evaluated the association of two variants (rs12970134 and rs4450508) near MC4R and a nonsyn... | DisGeNET | Detail |
| Here, we evaluated the association of two variants (rs12970134 and rs4450508) near MC4R and a nonsyn... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs4450508 dbSNP
- Genome
- hg38
- Position
- chr18:60,246,201-60,246,201
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs4450508
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1358
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2276
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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