chr18:60371062:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:58,038,295-58,040,008 |
| hg38 | chr18:60,371,062-60,372,775 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
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 |
|---|---|---|---|---|---|
| 0.002 | Colonic Neoplasms | NA | GAD | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| <0.001 | Mental Depression | The goal of this study was to conduct an in-depth and sophisticated analysis of ... | BeFree | 24827639 | Detail |
| 0.002 | Diabetes | NA | BeFree | Detail | |
| 0.004 | diabetes mellitus | NA | BeFree,GAD | Detail | |
| 0.029 | Diabetes Mellitus, Non-Insulin-Dependent | When body mass index and waist circumference were further adjusted, the associat... | BeFree,GAD | 25093408 | Detail |
| 0.029 | Diabetes Mellitus, Non-Insulin-Dependent | There is no evidence supporting an association between variants in the fat mass-... | BeFree,GAD | 25501231 | Detail |
| 0.029 | Diabetes Mellitus, Non-Insulin-Dependent | Notable associations observed for genes previously identified at genome-wide sig... | BeFree,GAD | 25760438 | Detail |
| 0.002 | Fatty Liver | NA | GAD | Detail | |
| 0.002 | Gastrointestinal Neoplasms | NA | GAD | Detail | |
| 0.791 | obesity | As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S... | BeFree | 24780838 | Detail |
| <0.001 | Hunger | NA | BeFree | Detail | |
| 0.080 | Hyperalgesia | NA | RGD | Detail | |
| 0.124 | hyperinsulinism | NA | BeFree,CTD_human,GAD | Detail | |
| 0.009 | Hypertensive disease | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Inflammation | NA | GAD | Detail | |
| 0.122 | Insulin resistance | NA | CTD_human,GAD | Detail | |
| 0.002 | leukemia | NA | GAD | Detail | |
| 0.002 | lymphoma | NA | GAD | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | Metabolic Diseases | NA | BeFree | Detail | |
| 0.006 | Metabolic syndrome X | In this study we found support for the hypothesis that weight regulation and ins... | BeFree | 23101478 | Detail |
| 0.019 | Obesity, Morbid | Melanocortin 4 receptor (MC4R) is a key factor in regulating energy homeostasis,... | BeFree,GAD | 24780838 | Detail |
| 0.019 | Obesity, Morbid | Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in childre... | BeFree,GAD | 26179253 | Detail |
| <0.001 | Pituitary Diseases | NA | BeFree | Detail | |
| <0.001 | polycystic ovary syndrome | NA | BeFree | Detail | |
| <0.001 | pseudohypoparathyroidism | NA | BeFree | Detail | |
| 0.002 | Precocious Puberty | NA | GAD | Detail | |
| 0.005 | West syndrome | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Thinness | NA | GAD | Detail | |
| 0.002 | tuberculosis | NA | GAD | Detail | |
| <0.001 | uremia | NA | BeFree | Detail | |
| 0.002 | Weight Gain | NA | GAD | Detail | |
| 0.080 | sciatic neuropathy | NA | RGD | Detail | |
| 0.005 | hyperandrogenism | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| 0.002 | age related macular degeneration | NA | GAD | Detail | |
| <0.001 | Adult-onset obesity | NA | BeFree | Detail | |
| <0.001 | Impaired glucose tolerance | NA | BeFree | Detail | |
| <0.001 | Obesity, Abdominal | NA | BeFree | Detail | |
| 0.080 | Endotoxemia | NA | RGD | Detail | |
| <0.001 | endometrial carcinoma | NA | BeFree | Detail | |
| 0.009 | Overweight | Only the rs12970134 in the MC4R gene was significantly associated with overweigh... | BeFree,GAD | 25115458 | Detail |
| 0.005 | body mass | NA | GAD | Detail | |
| 0.003 | Sleep Apnea, Obstructive | NA | BeFree,GAD | Detail | |
| 0.006 | Metabolic syndrome X | NA | BeFree,GAD | Detail | |
| 0.009 | Overweight | MC4R variants were detected in three patients: the known I169S variant was found... | BeFree | 19214805 | Detail |
| 0.124 | hyperinsulinism | MC4R variants were detected in three patients: the known I169S variant was found... | BeFree | 19214805 | Detail |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Bardet-Biedl syndrome | However, some cases of obesity are endogenous, associated with hormonal, genetic... | BeFree | 25198446 | Detail |
| 0.002 | Microsatellite Instability | NA | GAD | Detail | |
| <0.001 | attention deficit hyperactivity disorder | Role of ADHD symptoms as a contributing factor to obesity in patients with MC4R ... | BeFree | 25466298 | Detail |
| 0.002 | Systemic arterial pressure | NA | GAD | Detail | |
| <0.001 | Familial obesity | NA | BeFree | Detail | |
| 0.003 | colorectal cancer | NA | BeFree,GAD | Detail | |
| <0.001 | Overweight and obesity | NA | BeFree | Detail | |
| <0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| 0.006 | bulimia nervosa | The coding region of the MC4R gene was sequenced in nonobese patients with binge... | BeFree,GAD,LHGDN | 25419636 | Detail |
| 0.004 | Pediatric Obesity | The combined effect of MC4R and FTO risk alleles on childhood obesity in Greece. | BeFree | 25402378 | Detail |
| <0.001 | Hypoadiponectinemia | NA | BeFree | Detail | |
| 0.080 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | NA | MGD | Detail | |
| 0.007 | Weight Loss Adverse Event | NA | GAD | Detail | |
| 0.002 | Weight Gain Adverse Event | NA | GAD | Detail | |
| <0.001 | Pseudohypoparathyroidism, Type Ia | NA | BeFree | Detail | |
| 0.080 | Acute-Phase Reaction | NA | RGD | Detail | |
| <0.001 | Anorexia | NA | BeFree | Detail | |
| <0.001 | anorexia nervosa | The coding region of the MC4R gene was sequenced in nonobese patients with binge... | BeFree | 25419636 | Detail |
| <0.001 | Anxiety Disorders | NA | BeFree | Detail | |
| 0.002 | Apnea | NA | GAD | Detail | |
| <0.001 | arteriosclerosis | NA | BeFree | Detail | |
| 0.002 | asthma | NA | GAD | Detail | |
| <0.001 | atherosclerosis | NA | BeFree | Detail | |
| 0.120 | Body Weight | NA | CTD_human | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| 0.003 | Bulimia | NA | BeFree,GAD | Detail | |
| 0.004 | Cachexia | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant neoplasm of endometrium | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The goal of this study was to conduct an in-depth and sophisticated analysis of MC4R polymorphisms, ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| When body mass index and waist circumference were further adjusted, the association of MC4R with typ... | DisGeNET | Detail |
| There is no evidence supporting an association between variants in the fat mass- and obesity-associa... | DisGeNET | Detail |
| Notable associations observed for genes previously identified at genome-wide significance in other p... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S, I69T, P78L, C84R, ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this study we found support for the hypothesis that weight regulation and insulin metabolism are ... | DisGeNET | Detail |
| Melanocortin 4 receptor (MC4R) is a key factor in regulating energy homeostasis, and null mutations ... | DisGeNET | Detail |
| Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguine... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Only the rs12970134 in the MC4R gene was significantly associated with overweight/obesity risk, with... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MC4R variants were detected in three patients: the known I169S variant was found in heterozygote sta... | DisGeNET | Detail |
| MC4R variants were detected in three patients: the known I169S variant was found in heterozygote sta... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| However, some cases of obesity are endogenous, associated with hormonal, genetic, or syndromic disor... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Role of ADHD symptoms as a contributing factor to obesity in patients with MC4R mutations. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The coding region of the MC4R gene was sequenced in nonobese patients with binge-eating behavior dia... | DisGeNET | Detail |
| The combined effect of MC4R and FTO risk alleles on childhood obesity in Greece. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The coding region of the MC4R gene was sequenced in nonobese patients with binge-eating behavior dia... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs17782312 dbSNP
- Genome
- hg38
- Position
- chr18:60,371,062-60,372,775
- Variant Type
- snv
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