chr7:128238730:G>A Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:127,878,783-127,878,783 View the variant detail on this assembly version. |
| hg38 | chr7:128,238,730-128,238,730 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.780 | |
| 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 |
|---|---|---|---|---|---|
| 0.641 | obesity | This study examined the association of a promoter polymorphism of the leptin gen... | BeFree | 20183928 | Detail |
| 0.440 | obesity | This study examined the association of a promoter polymorphism of the leptin gen... | BeFree | 20183928 | Detail |
| 0.440 | obesity | Therefore, the present study aimed to evaluate the relationships among the gene ... | BeFree | 26255942 | Detail |
| 0.151 | obesity | Therefore, the present study aimed to evaluate the relationships among the gene ... | BeFree | 26255942 | Detail |
| 0.013 | obesity | Therefore, the present study aimed to evaluate the relationships among the gene ... | BeFree | 26255942 | Detail |
| 0.008 | gynecomastia | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2... | BeFree | 24625355 | Detail |
| 0.641 | obesity | Therefore, the present study aimed to evaluate the relationships among the gene ... | BeFree | 26255942 | Detail |
| <0.001 | gynecomastia | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2... | BeFree | 24625355 | Detail |
| <0.001 | congestive heart failure | The aim of this study was to investigate the possible associations of defined va... | BeFree | 19337797 | Detail |
| 0.001 | congestive heart failure | The aim of this study was to investigate the possible associations of defined va... | BeFree | 19337797 | Detail |
| 0.440 | obesity | To examine the association of a common -2548G/A (rs7799039) promoter variant of ... | BeFree | 18923972 | Detail |
| 0.240 | Hypertensive disease | To examine the association of a common -2548G/A (rs7799039) promoter variant of ... | BeFree | 18923972 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs... | DisGeNET | Detail |
| This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs... | DisGeNET | Detail |
| Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghreli... | DisGeNET | Detail |
| Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghreli... | DisGeNET | Detail |
| Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghreli... | DisGeNET | Detail |
| Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (r... | DisGeNET | Detail |
| Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghreli... | DisGeNET | Detail |
| Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (r... | DisGeNET | Detail |
| The aim of this study was to investigate the possible associations of defined variability in leptin ... | DisGeNET | Detail |
| The aim of this study was to investigate the possible associations of defined variability in leptin ... | DisGeNET | Detail |
| To examine the association of a common -2548G/A (rs7799039) promoter variant of the human leptin gen... | DisGeNET | Detail |
| To examine the association of a common -2548G/A (rs7799039) promoter variant of the human leptin gen... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs7799039 dbSNP
- Genome
- hg38
- Position
- chr7:128,238,730-128,238,730
- 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))
- rs7799039
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7797
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13066
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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