chr3:10332365:T>G Detail (hg19) (GHRL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:10,332,365-10,332,365 |
| hg38 | chr3:10,290,681-10,290,681 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001134941.2:c.-30+35A>C | |
| NM_001302821.1:c.-30+35A>C | ||
| NM_016362.4:c.-30+35A>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.075 | |
| 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 |
|---|---|---|---|---|---|
| 0.440 | 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 |
| 0.641 | obesity | Therefore, the present study aimed to evaluate the relationships among the gene ... | BeFree | 26255942 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 |
| Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghreli... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs26802 dbSNP
- Genome
- hg19
- Position
- chr3:10,332,365-10,332,365
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- 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))
- rs26802
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0751
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1259
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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