chr18:57851097:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:57,851,097-57,851,097 |
| hg38 | chr18:60,183,864-60,183,864 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:0.228 | |
| 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 |
|---|---|---|---|---|---|
| 0.069 | obesity | Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... | BeFree | 24458218 | Detail |
| 0.400 | obesity | Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... | BeFree | 24458218 | Detail |
| 0.029 | Diabetes Mellitus, Non-Insulin-Dependent | We examined rs17782313, rs17700633, rs12970134, rs477181, rs502933, and rs445050... | BeFree | 19073769 | Detail |
| 0.791 | obesity | Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... | BeFree | 24458218 | Detail |
| <0.001 | Non-alcoholic Fatty Liver Disease | Our aim was to identify whether the obesity-susceptible gene variants (rs9939609... | BeFree | 24458218 | Detail |
| 0.124 | hyperinsulinism | In sum, our data support the associations of variants rs17782313 and rs12970134 ... | BeFree | 21372613 | Detail |
| 0.008 | obesity | In the present study, we examined the association between variants in fat mass- ... | BeFree | 25501231 | Detail |
| 0.791 | obesity | In the present study, we examined the association between variants in fat mass- ... | BeFree | 25501231 | Detail |
| 0.002 | Diabetes Mellitus, Non-Insulin-Dependent | In the present study, we analyzed independent and combined effects of the FTO rs... | BeFree | 19255736 | Detail |
| <0.001 | obesity | In the present study, we analyzed independent and combined effects of the FTO rs... | BeFree | 19255736 | Detail |
| 0.400 | obesity | Recent genome-wide association (GWA) studies identified several common variants ... | BeFree | 21544599 | Detail |
| 0.400 | obesity | Using the three obesity-associated polymorphisms FTO rs9939609, MC4R rs17782313,... | BeFree | 24762112 | Detail |
| 0.125 | Hyperphagia | Association between MC4R rs17782313 polymorphism and overeating behaviors. | BeFree | 24827639 | Detail |
| 0.029 | Diabetes Mellitus, Non-Insulin-Dependent | MC4R rs17782313 was associated with obesity and could confer a certain susceptib... | BeFree | 24151814 | Detail |
| 0.251 | obesity | Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... | BeFree | 21527513 | Detail |
| 0.791 | obesity | Association study of MC4R with complex obesity and replication of the rs17782313... | BeFree | 21303735 | Detail |
| 0.009 | Overweight | Among control women, both the FTO rs9939609 A and MC4R rs17782313 C alleles were... | BeFree | 21347432 | Detail |
| 0.791 | obesity | We focused on physical activity as an environmental risk factor, and on the GWA ... | BeFree | 18682847 | Detail |
| 0.791 | obesity | Combined effects of FTO rs9939609 and MC4R rs17782313 on obesity and BMI in Chin... | BeFree | 21063808 | Detail |
| 0.003 | colorectal cancer | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--K... | BeFree | 22511254 | Detail |
| <0.001 | colorectal cancer | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--K... | BeFree | 22511254 | Detail |
| 0.791 | obesity | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--K... | BeFree | 22511254 | Detail |
| 0.791 | obesity | Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... | BeFree | 21527513 | Detail |
| 0.013 | Overweight | Among control women, both the FTO rs9939609 A and MC4R rs17782313 C alleles were... | BeFree | 21347432 | Detail |
| 0.400 | obesity | Preliminary findings on the influence of FTO rs9939609 and MC4R rs17782313 polym... | BeFree | 24307561 | Detail |
| <0.001 | endometrial carcinoma | The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endom... | BeFree | 21347432 | Detail |
| 0.004 | Pediatric Obesity | MC4R polymorphism rs17782313 may contribute to childhood obesity, affecting enjo... | BeFree | 24139164 | Detail |
| 0.280 | obesity | Furthermore, we found nominal associations between obesity risk or BMI variation... | BeFree | 23375129 | Detail |
| 0.791 | obesity | MC4R mutations with partial or total loss of function, as well as the variant rs... | BeFree | 23147118 | Detail |
| 0.153 | obesity | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--K... | BeFree | 22511254 | Detail |
| 0.400 | obesity | Combined effects of FTO rs9939609 and MC4R rs17782313 on obesity and BMI in Chin... | BeFree | 21063808 | Detail |
| 0.029 | Diabetes Mellitus, Non-Insulin-Dependent | Associations of the FTO rs9939609 and the MC4R rs17782313 polymorphisms with typ... | BeFree | 23130628 | Detail |
| <0.001 | uterine corpus cancer | The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endom... | BeFree | 21347432 | Detail |
| 0.791 | obesity | No significant association was observed for obesity-traits and Mc4R variant rs17... | BeFree | 23447422 | Detail |
| 0.791 | obesity | MC4R rs17782313 was associated with obesity and could confer a certain susceptib... | BeFree | 24151814 | Detail |
| 0.029 | Diabetes Mellitus, Non-Insulin-Dependent | We investigated the association between genetic variants in FTO (rs9939609) and ... | BeFree | 22421923 | Detail |
| <0.001 | diabetes mellitus | We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associa... | BeFree | 22466342 | Detail |
| 0.400 | obesity | We focused on physical activity as an environmental risk factor, and on the GWA ... | BeFree | 18682847 | Detail |
| <0.001 | Diabetes | We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associa... | BeFree | 22466342 | Detail |
| 0.791 | obesity | Melanocortin-4 receptor polymorphism rs17782313: association with obesity and ea... | BeFree | 24139164 | Detail |
| 0.791 | obesity | Preliminary findings on the influence of FTO rs9939609 and MC4R rs17782313 polym... | BeFree | 24307561 | Detail |
| 0.151 | obesity | Using the three obesity-associated polymorphisms FTO rs9939609, MC4R rs17782313,... | BeFree | 24762112 | Detail |
| 0.791 | obesity | The common polymorphism rs17782313 lying 188 kb downstream of the MC4R gene has ... | BeFree | 20215774 | Detail |
| <0.001 | endometrial carcinoma | The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endom... | BeFree | 21347432 | Detail |
| 0.159 | obesity | Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... | BeFree | 21527513 | Detail |
| 0.791 | obesity | Several independent genome-wide association studies recently identified two comm... | BeFree | 21347432 | Detail |
| 0.791 | obesity | This study aimed to determine whether there is a relationship between common FTO... | BeFree | 23201545 | Detail |
| 0.341 | Diabetes Mellitus, Non-Insulin-Dependent | We investigated the association between genetic variants in FTO (rs9939609) and ... | BeFree | 22421923 | Detail |
| 0.440 | obesity | Preliminary findings on the influence of FTO rs9939609 and MC4R rs17782313 polym... | BeFree | 24307561 | Detail |
| <0.001 | colorectal carcinoma | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--K... | BeFree | 22511254 | Detail |
| <0.001 | Malignant neoplasm of endometrium | The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endom... | BeFree | 21347432 | Detail |
| 0.400 | obesity | Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule ... | BeFree | 21527513 | Detail |
| <0.001 | Malignant neoplasm of endometrium | The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endom... | BeFree | 21347432 | Detail |
| <0.001 | Hunger | Melanocortin-4 receptor polymorphism rs17782313: association with obesity and ea... | BeFree | 24139164 | Detail |
| <0.001 | colorectal carcinoma | Risk alleles for two obesity SNPs were associated with colorectal cancer risk--K... | BeFree | 22511254 | Detail |
| <0.001 | uterine corpus cancer | The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endom... | BeFree | 21347432 | Detail |
| 0.791 | obesity | Under an additive model, the rs17782313-C MC4R allele showed a trend towards hig... | BeFree | 19153581 | Detail |
| 0.153 | obesity | Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were st... | BeFree | 23424664 | Detail |
| 0.155 | obesity | Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815... | BeFree | 19164386 | Detail |
| 0.791 | obesity | We have previously demonstrated that three obesity-susceptible single nucleotide... | BeFree | 21147891 | Detail |
| 0.153 | obesity | Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815... | BeFree | 19164386 | Detail |
| <0.001 | Hypertensive disease | The genetic risk score (GRS), based on three significant SNPs (FTO rs9939609, MC... | BeFree | 23588626 | Detail |
| <0.001 | Obesity, Abdominal | Our study replicates the statistically significant association of four SNPs (FTO... | BeFree | 23424664 | Detail |
| 0.791 | obesity | Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815... | BeFree | 19164386 | Detail |
| 0.153 | obesity | Among those previously identified SNPs, we selected six (rs7138803, rs1805081, r... | BeFree | 20843981 | Detail |
| 0.009 | Hypertensive disease | The genetic risk score (GRS), based on three significant SNPs (FTO rs9939609, MC... | BeFree | 23588626 | Detail |
| 0.400 | obesity | Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were st... | BeFree | 23424664 | Detail |
| <0.001 | Obesity, Abdominal | Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were st... | BeFree | 23424664 | Detail |
| 0.791 | obesity | Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were st... | BeFree | 23424664 | Detail |
| 0.153 | obesity | After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543... | BeFree | 25637721 | Detail |
| 0.121 | obesity | After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543... | BeFree | 25637721 | Detail |
| 0.021 | obesity | After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543... | BeFree | 25637721 | Detail |
| 0.791 | obesity | After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543... | BeFree | 25637721 | Detail |
| <0.001 | Overweight and obesity | Several studies have shown Single Nucleotide Polymorphisms (SNPs) linked to over... | BeFree | 24091943 | Detail |
| 0.001 | Overweight and obesity | Several studies have shown Single Nucleotide Polymorphisms (SNPs) linked to over... | BeFree | 24091943 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... | DisGeNET | Detail |
| Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... | DisGeNET | Detail |
| We examined rs17782313, rs17700633, rs12970134, rs477181, rs502933, and rs4450508 near MC4R for asso... | DisGeNET | Detail |
| Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... | DisGeNET | Detail |
| Our aim was to identify whether the obesity-susceptible gene variants (rs9939609, rs9930506, and rs4... | DisGeNET | Detail |
| In sum, our data support the associations of variants rs17782313 and rs12970134 near MC4R with early... | DisGeNET | Detail |
| In the present study, we examined the association between variants in fat mass- and obesity-associat... | DisGeNET | Detail |
| In the present study, we examined the association between variants in fat mass- and obesity-associat... | DisGeNET | Detail |
| In the present study, we analyzed independent and combined effects of the FTO rs1421085 and MC4R rs1... | DisGeNET | Detail |
| In the present study, we analyzed independent and combined effects of the FTO rs1421085 and MC4R rs1... | DisGeNET | Detail |
| Recent genome-wide association (GWA) studies identified several common variants for obesity: rs99396... | DisGeNET | Detail |
| Using the three obesity-associated polymorphisms FTO rs9939609, MC4R rs17782313, and TMEM18 rs654823... | DisGeNET | Detail |
| Association between MC4R rs17782313 polymorphism and overeating behaviors. | DisGeNET | Detail |
| MC4R rs17782313 was associated with obesity and could confer a certain susceptibility to T2D that co... | DisGeNET | Detail |
| Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... | DisGeNET | Detail |
| Association study of MC4R with complex obesity and replication of the rs17782313 association signal. | DisGeNET | Detail |
| Among control women, both the FTO rs9939609 A and MC4R rs17782313 C alleles were associated with a 1... | DisGeNET | Detail |
| We focused on physical activity as an environmental risk factor, and on the GWA identified obesity v... | DisGeNET | Detail |
| Combined effects of FTO rs9939609 and MC4R rs17782313 on obesity and BMI in Chinese Han populations. | DisGeNET | Detail |
| Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ... | DisGeNET | Detail |
| Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ... | DisGeNET | Detail |
| Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ... | DisGeNET | Detail |
| Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... | DisGeNET | Detail |
| Among control women, both the FTO rs9939609 A and MC4R rs17782313 C alleles were associated with a 1... | DisGeNET | Detail |
| Preliminary findings on the influence of FTO rs9939609 and MC4R rs17782313 polymorphisms on resting ... | DisGeNET | Detail |
| The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk i... | DisGeNET | Detail |
| MC4R polymorphism rs17782313 may contribute to childhood obesity, affecting enjoyment of food, satie... | DisGeNET | Detail |
| Furthermore, we found nominal associations between obesity risk or BMI variation and the following S... | DisGeNET | Detail |
| MC4R mutations with partial or total loss of function, as well as the variant rs17782313 mapped near... | DisGeNET | Detail |
| Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ... | DisGeNET | Detail |
| Combined effects of FTO rs9939609 and MC4R rs17782313 on obesity and BMI in Chinese Han populations. | DisGeNET | Detail |
| Associations of the FTO rs9939609 and the MC4R rs17782313 polymorphisms with type 2 diabetes are mod... | DisGeNET | Detail |
| The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk i... | DisGeNET | Detail |
| No significant association was observed for obesity-traits and Mc4R variant rs17782313. | DisGeNET | Detail |
| MC4R rs17782313 was associated with obesity and could confer a certain susceptibility to T2D that co... | DisGeNET | Detail |
| We investigated the association between genetic variants in FTO (rs9939609) and near MC4R (rs1778231... | DisGeNET | Detail |
| We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associates with risk of obe... | DisGeNET | Detail |
| We focused on physical activity as an environmental risk factor, and on the GWA identified obesity v... | DisGeNET | Detail |
| We tested the hypothesis that the ADRB2rs1800888(Thr164Ile) polymorphism associates with risk of obe... | DisGeNET | Detail |
| Melanocortin-4 receptor polymorphism rs17782313: association with obesity and eating in the absence ... | DisGeNET | Detail |
| Preliminary findings on the influence of FTO rs9939609 and MC4R rs17782313 polymorphisms on resting ... | DisGeNET | Detail |
| Using the three obesity-associated polymorphisms FTO rs9939609, MC4R rs17782313, and TMEM18 rs654823... | DisGeNET | Detail |
| The common polymorphism rs17782313 lying 188 kb downstream of the MC4R gene has recently been found ... | DisGeNET | Detail |
| The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk i... | DisGeNET | Detail |
| Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... | DisGeNET | Detail |
| Several independent genome-wide association studies recently identified two common polymorphisms, FT... | DisGeNET | Detail |
| This study aimed to determine whether there is a relationship between common FTO (rs17817449) and MC... | DisGeNET | Detail |
| We investigated the association between genetic variants in FTO (rs9939609) and near MC4R (rs1778231... | DisGeNET | Detail |
| Preliminary findings on the influence of FTO rs9939609 and MC4R rs17782313 polymorphisms on resting ... | DisGeNET | Detail |
| Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ... | DisGeNET | Detail |
| The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk i... | DisGeNET | Detail |
| Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, Niemann... | DisGeNET | Detail |
| The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk i... | DisGeNET | Detail |
| Melanocortin-4 receptor polymorphism rs17782313: association with obesity and eating in the absence ... | DisGeNET | Detail |
| Risk alleles for two obesity SNPs were associated with colorectal cancer risk--KCTD15 rs29941 [odds ... | DisGeNET | Detail |
| The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk i... | DisGeNET | Detail |
| Under an additive model, the rs17782313-C MC4R allele showed a trend towards higher percentages of s... | DisGeNET | Detail |
| Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were statistically signific... | DisGeNET | Detail |
| Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815752 and GNPDA2 rs109... | DisGeNET | Detail |
| We have previously demonstrated that three obesity-susceptible single nucleotide polymorphisms (SNPs... | DisGeNET | Detail |
| Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815752 and GNPDA2 rs109... | DisGeNET | Detail |
| The genetic risk score (GRS), based on three significant SNPs (FTO rs9939609, MC4R rs17782313, GNPDA... | DisGeNET | Detail |
| Our study replicates the statistically significant association of four SNPs (FTO rs9939609, MC4R rs1... | DisGeNET | Detail |
| Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815752 and GNPDA2 rs109... | DisGeNET | Detail |
| Among those previously identified SNPs, we selected six (rs7138803, rs1805081, rs6499640, rs17782313... | DisGeNET | Detail |
| The genetic risk score (GRS), based on three significant SNPs (FTO rs9939609, MC4R rs17782313, GNPDA... | DisGeNET | Detail |
| Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were statistically signific... | DisGeNET | Detail |
| Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were statistically signific... | DisGeNET | Detail |
| Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were statistically signific... | DisGeNET | Detail |
| After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543874, MAP2K5 rs224142... | DisGeNET | Detail |
| After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543874, MAP2K5 rs224142... | DisGeNET | Detail |
| After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543874, MAP2K5 rs224142... | DisGeNET | Detail |
| After adjusting for age, sex and multiple testing, MC4R rs17782313, SEC16B rs543874, MAP2K5 rs224142... | DisGeNET | Detail |
| Several studies have shown Single Nucleotide Polymorphisms (SNPs) linked to overweight and obesity, ... | DisGeNET | Detail |
| Several studies have shown Single Nucleotide Polymorphisms (SNPs) linked to overweight and obesity, ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs17782313 dbSNP
- Genome
- hg19
- Position
- chr18:57,851,097-57,851,097
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs17782313
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.228
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3822
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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