chr1:72346757:G>A Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:72,812,440-72,812,440 View the variant detail on this assembly version. |
| hg38 | chr1:72,346,757-72,346,757 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.930 | |
| 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 |
|---|---|---|---|---|---|
| 0.280 | obesity | Furthermore, we found nominal associations between obesity risk or BMI variation... | BeFree | 23375129 | Detail |
| 0.012 | Obesity, Morbid | We found strong associations with severe obesity for SNP rs9939609 within the FT... | BeFree | 23950990 | Detail |
| <0.001 | Obesity, Morbid | We found strong associations with severe obesity for SNP rs9939609 within the FT... | BeFree | 23950990 | Detail |
| <0.001 | Ovarian Diseases | Only one of these 15 SNPs (rs2815752 in NEGR1) was found to have a nominally sig... | BeFree | 21283731 | Detail |
| 0.155 | obesity | Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815... | BeFree | 19164386 | Detail |
| 0.153 | obesity | Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815... | BeFree | 19164386 | Detail |
| 0.791 | obesity | Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815... | BeFree | 19164386 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Furthermore, we found nominal associations between obesity risk or BMI variation and the following S... | DisGeNET | Detail |
| We found strong associations with severe obesity for SNP rs9939609 within the FTO gene (P = 9.3 × 10... | DisGeNET | Detail |
| We found strong associations with severe obesity for SNP rs9939609 within the FTO gene (P = 9.3 × 10... | DisGeNET | Detail |
| Only one of these 15 SNPs (rs2815752 in NEGR1) was found to have a nominally significant association... | DisGeNET | Detail |
| Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815752 and GNPDA2 rs109... | DisGeNET | Detail |
| Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815752 and GNPDA2 rs109... | DisGeNET | Detail |
| Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815752 and GNPDA2 rs109... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2815752 dbSNP
- Genome
- hg38
- Position
- chr1:72,346,757-72,346,757
- 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))
- rs2815752
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9301
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 15589
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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