rs1805134
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1805134(C;C) |
Make rs1805134(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 65601426 |
Gene | LEPR |
is a | snp |
is | mentioned by |
dbSNP | rs1805134 |
dbSNP (classic) | rs1805134 |
ClinGen | rs1805134 |
ebi | rs1805134 |
HLI | rs1805134 |
Exac | rs1805134 |
Gnomad | rs1805134 |
Varsome | rs1805134 |
LitVar | rs1805134 |
Map | rs1805134 |
PheGenI | rs1805134 |
Biobank | rs1805134 |
1000 genomes | rs1805134 |
hgdp | rs1805134 |
ensembl | rs1805134 |
geneview | rs1805134 |
scholar | rs1805134 |
rs1805134 | |
pharmgkb | rs1805134 |
gwascentral | rs1805134 |
openSNP | rs1805134 |
23andMe | rs1805134 |
SNPshot | rs1805134 |
SNPdbe | rs1805134 |
MSV3d | rs1805134 |
GWAS Ctlg | rs1805134 |
Merged from | Rs3790419 |
GMAF | 0.1919 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | |
---|---|---|
|
[PMID 18212354] Genes in glucose metabolism and association with spina bifida.
[PMID 19077438] Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
[PMID 20032477] Leptin receptor polymorphisms interact with polyunsaturated fatty acids to augment risk of insulin resistance and metabolic syndrome in adults.
[PMID 20416077] Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
[PMID 21204206] Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.
ClinVar | |
---|---|
Risk | rs1805134(C;C) |
Alt | rs1805134(C;C) |
Reference | Rs1805134(T;T) |
Significance | Probable-non-pathogenic |
Disease | Monogenic Non-Syndromic Obesity Leptin receptor deficiency |
Variation | info |
Gene | LEPR LEPROT |
CLNDBN | Monogenic Non-Syndromic Obesity Leptin receptor deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.66067109T>C |
CLNSRC | |
CLNACC | RCV000288988.1, RCV000346307.1, |