rs13447324
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.
|
20966905 |
2011 |
rs13447324
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
|
19091795 |
2009 |
rs13447324
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
|
18801902 |
2009 |
rs13447324
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway.
|
19301229 |
2009 |
rs13447324
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.
|
18559663 |
2008 |
rs13447324
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.
|
16507637 |
2006 |
rs13447324
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Obesity-associated mutations in the human melanocortin-4 receptor gene.
|
16274851 |
2006 |
rs13447324
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.
|
15486053 |
2005 |
rs13447324
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
|
12646665 |
2003 |
rs13447324
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.
|
12970296 |
2003 |
rs13447324
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
In both of these cases Tyr-35-Stop and Asp-37-Val were maternally transmitted, thus these variations form a haplotype. d) e) A male obese proband harbored two missense mutations (Ser-30-Phe, Gly-252-Ser). f)-i) Four different missense mutations (Pro-78-Leu, Thr-112-Met, Arg-165-Trp, Ile-317-Thr) were detected in four different male probands, respectively.
|
10199800 |
1999 |
rs193922685
|
|
Obesity
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs193922687
|
|
Obesity
|
GCA |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs369841551
|
|
Obesity
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs370479598
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs376439188
|
|
Obesity
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs52804924
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs747681609
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.
|
25332687 |
2014 |
rs747681609
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor.
|
17628007 |
2007 |
rs747681609
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.
|
15486053 |
2005 |
rs747681609
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The second variant, detected in 10 obese subjects, predicted a previously identified arginine-to-glutamine substitution at codon 165, and the third variant, detected in one obese subject, predicted a novel glycine-to-serine substitution at codon 231.
|
15448103 |
2004 |
rs747681609
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity.
|
12690102 |
2003 |
rs747681609
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
|
12646665 |
2003 |
rs747681609
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.
|
12588803 |
2003 |
rs747681609
|
|
Obesity
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.
|
10903343 |
2000 |