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rs1137100

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Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1137100(A;G)
Make rs1137100(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position65570758
GeneLEPR
is asnp
is mentioned by
dbSNPrs1137100
ebirs1137100
HLIrs1137100
Exacrs1137100
Varsomers1137100
Maprs1137100
PheGenIrs1137100
hapmaprs1137100
1000 genomesrs1137100
hgdprs1137100
ensemblrs1137100
gopubmedrs1137100
geneviewrs1137100
scholarrs1137100
googlers1137100
pharmgkbrs1137100
gwascentralrs1137100
openSNPrs1137100
23andMers1137100
23andMe allrs1137100
SNP Nexus

SNPshotrs1137100
SNPdbers1137100
MSV3drs1137100
GWAS Ctlgrs1137100
GMAF0.3852
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM601007
DescLEPTIN RECEPTOR POLYMORPHISM
Variant0004
Relatedalso
rs1137100 is a nonsynonymous coding SNP in exon 4 of the leptin receptor LEPR gene. It has been reported to affect glucose tolerance and insulin response, and it is also one of five SNPs reported to be useful in a SNP set defining the risk of dying from prostate cancer among patients with the disease; see gs242 and gs243.


[PMID 19921265] The Q223R polymorphism in LEPR is associated with obesity in Pacific Islanders


[PMID 20032477] Leptin receptor polymorphisms interact with polyunsaturated fatty acids to augment risk of insulin resistance and metabolic syndrome in adults


[PMID 20183928] The Q223R polymorphism in LEPR is associated with obesity in Pacific Islanders


[PMID 20167575OA-icon.png] Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels


[PMID 20874424] Leptin receptor Lys109Arg and Gln223Arg polymorphisms are associated with early atherosclerosis


[PMID 21512510] The Effect of Ponderal Index at Birth on the Relationships Between Common LEP and LEPR Polymorphisms and Adiposity in Adolescents


[PMID 21516303OA-icon.png] Common genetic variation in adiponectin, leptin, and leptin receptor and association with breast cancer subtypes


ClinVar
Risk rs1137100(G;G)
Alt rs1137100(G;G)
Reference rs1137100(A;A)
Significance Non-pathogenic
Disease LEPTIN RECEPTOR POLYMORPHISM
Variation info
Gene LEPR LEPROT
CLNDBN LEPTIN RECEPTOR POLYMORPHISM
Reversed 0
HGVS NC_000001.10:g.66036441A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009049.2,



[PMID 15113403OA-icon.png] Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.


[PMID 15157284OA-icon.png] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.


[PMID 18059035OA-icon.png] Leptin and leptin receptor genotypes and colon cancer: gene-gene and gene-lifestyle interactions.


[PMID 18212354OA-icon.png] Genes in glucose metabolism and association with spina bifida.


[PMID 18249219] Interaction of single nucleotide polymorphisms in ADRB2, ADRB3, TNF, IL6, IGF1R, LIPC, LEPR, and GHRL with physical activity on the risk of type 2 diabetes mellitus and changes in characteristics of the metabolic syndrome: The Finnish Diabetes Prevention Study.


[PMID 18282109OA-icon.png] Adaptations to climate in candidate genes for common metabolic disorders.


[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


[PMID 19035456OA-icon.png] Adipokine genes and prostate cancer risk.


[PMID 19401628OA-icon.png] Host genetics, steatosis and insulin resistance among African Americans and Caucasian Americans with hepatitis C virus genotype-1 infection.


[PMID 20149225OA-icon.png] Leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analysis.


[PMID 21393862OA-icon.png] A mutation in the leptin receptor is associated with Entamoeba histolytica infection in children.


[PMID 22228719OA-icon.png] Common variants of IL6, LEPR, and PBEF1 are associated with obesity in Indian children.


[PMID 23054017] The joint effect of cigarette smoking and polymorphisms on LRP5, LEPR, near MC4R and SH2B1 genes on metabolic syndrome susceptibility in Taiwan


GET Evidence
LEPR-K109R
aa_change Lys109Arg
aa_change_short K109R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.231363
summary



[PMID 23278404] The impact of LEPR variants on risk of non-alcoholic fatty liver disease and its interaction with PNPLA3 variant


[PMID 23427181OA-icon.png] Family-Based Association Study Between SLC2A1, HK1, and LEPR Polymorphisms With Myelomeningocele in Chile


[PMID 24468228] Leptin Signaling and Hyperparathyroidism: Clinical and Genetic Associations


[PMID 22975643OA-icon.png] Leptin and leptin receptor genetic variants associate with habitual physical activity and the arm body composition response to resistance training.


[PMID 22983835] The association between polymorphisms in the leptin receptor gene and risk of breast cancer: a systematic review and pooled analysis.


[PMID 25028703] Maternal Genotype and Severe Preeclampsia: A HuGE Review


[PMID 25810718OA-icon.png] Polymorphism in LEP and LEPR May Modify Leptin Levels and Represent Risk Factors for Thyroid Cancer


[PMID 26043189] Genetic determinants of quantitative traits associated with cardiovascular disease risk


[PMID 26588347] Melanocortin-4 Receptor Gene Variation Is Associated with Eating Behavior in Chilean Adults


[PMID 27459797] [Association of leptin receptor gene polymorphrism with metabolic syndrome in older Han adults from major cities in China].