chr1:65469811:G>A Detail (hg38) (LEPR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:65,935,494-65,935,494 View the variant detail on this assembly version. |
| hg38 | chr1:65,469,811-65,469,811 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002303.5:c.-21+44433G>A | |
| NM_001003680.3:c.-21+44433G>A | ||
| NM_001003679.3:c.-21+44433G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.121 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | colon carcinoma | We observed a slight reduction in colon cancer risk with the AA LEP rs2167270 ge... | BeFree | 18059035 | Detail |
| <0.001 | Malignant tumor of colon | We observed a slight reduction in colon cancer risk with the AA LEP rs2167270 ge... | BeFree | 18059035 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We observed a slight reduction in colon cancer risk with the AA LEP rs2167270 genotype (OR 0.79 95% ... | DisGeNET | Detail |
| We observed a slight reduction in colon cancer risk with the AA LEP rs2167270 genotype (OR 0.79 95% ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs6588147 dbSNP
- Genome
- hg38
- Position
- chr1:65,469,811-65,469,811
- 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))
- rs6588147
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1211
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2030
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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