chr12:50247468:G>A Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:50,247,468-50,247,468 |
| hg38 | chr12:49,853,685-49,853,685 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.348 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
risk factor
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
risk factor
|
2019-12-26 | no assertion criteria provided | obesity |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.251 | obesity | Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... | BeFree | 21527513 | Detail |
| 0.791 | obesity | Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... | BeFree | 21527513 | Detail |
| 0.159 | obesity | Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... | BeFree | 21527513 | Detail |
| 0.400 | obesity | Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... | BeFree | 21527513 | Detail |
| 0.014 | obesity | Common rs7138803 variant of FAIM2 and obesity in Han Chinese. | BeFree | 23924573 | Detail |
| <0.001 | Hypertensive disease | Of the 11 SNPs, only FTO rs9939609 was significantly associated with systolic BP... | BeFree | 23588626 | Detail |
| 0.011 | Diabetes Mellitus, Non-Insulin-Dependent | In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observ... | BeFree | 24528214 | Detail |
| <0.001 | Hypertensive disease | Of the 11 SNPs, only FTO rs9939609 was significantly associated with systolic BP... | BeFree | 23588626 | Detail |
| 0.153 | obesity | Among those previously identified SNPs, we selected six (rs7138803, rs1805081, r... | BeFree | 20843981 | Detail |
| 0.341 | Diabetes Mellitus, Non-Insulin-Dependent | In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observ... | BeFree | 24528214 | Detail |
| 0.155 | obesity | In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observ... | BeFree | 24528214 | Detail |
| 0.007 | Diabetes Mellitus, Non-Insulin-Dependent | In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observ... | BeFree | 24528214 | Detail |
| 0.278 | obesity | In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observ... | BeFree | 24528214 | Detail |
| <0.001 | Metabolic syndrome X | Of 11 SNPs, GNPDA2 rs10938397, BDNF rs6265, and FAIM2 rs7138803 were nominally a... | BeFree | 24269186 | Detail |
| 0.014 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| <0.001 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.121 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.150 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.162 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.021 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.791 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.126 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| <0.001 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000012.12:g.49853685G>A AND Obesity | ClinVar | Detail |
| Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... | DisGeNET | Detail |
| Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... | DisGeNET | Detail |
| Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... | DisGeNET | Detail |
| Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... | DisGeNET | Detail |
| Common rs7138803 variant of FAIM2 and obesity in Han Chinese. | DisGeNET | Detail |
| Of the 11 SNPs, only FTO rs9939609 was significantly associated with systolic BP (SBP; P=0.034) and ... | DisGeNET | Detail |
| In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observed a statistically s... | DisGeNET | Detail |
| Of the 11 SNPs, only FTO rs9939609 was significantly associated with systolic BP (SBP; P=0.034) and ... | DisGeNET | Detail |
| Among those previously identified SNPs, we selected six (rs7138803, rs1805081, rs6499640, rs17782313... | DisGeNET | Detail |
| In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observed a statistically s... | DisGeNET | Detail |
| In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observed a statistically s... | DisGeNET | Detail |
| In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observed a statistically s... | DisGeNET | Detail |
| In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observed a statistically s... | DisGeNET | Detail |
| Of 11 SNPs, GNPDA2 rs10938397, BDNF rs6265, and FAIM2 rs7138803 were nominally associated with risk ... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs7138803 dbSNP
- Genome
- hg19
- Position
- chr12:50,247,468-50,247,468
- 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))
- rs7138803
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3478
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5829
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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