rs1137100

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs1137100(A;G)

Make rs1137100(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

65570758

Gene

LEPR

is a	snp
is	mentioned by
dbSNP	rs1137100
dbSNP (classic)	rs1137100
ClinGen	rs1137100
ebi	rs1137100
HLI	rs1137100
Exac	rs1137100
Gnomad	rs1137100
Varsome	rs1137100
LitVar	rs1137100
Map	rs1137100
PheGenI	rs1137100
Biobank	rs1137100
1000 genomes	rs1137100
hgdp	rs1137100
ensembl	rs1137100
geneview	rs1137100
scholar	rs1137100
google	rs1137100
pharmgkb	rs1137100
gwascentral	rs1137100
openSNP	rs1137100
23andMe	rs1137100
SNPshot	rs1137100
SNPdbe	rs1137100
MSV3d	rs1137100
GWAS Ctlg	rs1137100

GMAF

0.3852

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

OMIM	601007
Desc	LEPTIN RECEPTOR POLYMORPHISM
Variant	0004
Related	also

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 20167575 ] 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 21516303 ] 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 Leptin receptor deficiency Monogenic Non-Syndromic Obesity
Variation	info
Gene	LEPR LEPROT
CLNDBN	LEPTIN RECEPTOR POLYMORPHISM Leptin receptor deficiency Monogenic Non-Syndromic Obesity
Reversed	0
HGVS	NC_000001.10:g.66036441A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009049.3, RCV000309499.1, RCV000366432.1,

[PMID 15113403 ] 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 15157284 ] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.

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

[PMID 18212354 ] 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 18282109 ] Adaptations to climate in candidate genes for common metabolic disorders.

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

[PMID 19035456 ] Adipokine genes and prostate cancer risk.

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

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

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

[PMID 22228719 ] 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

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

[PMID 23427181 ] 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 22975643 ] 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 25810718 ] 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].

[PMID 29903247] [Relationship of diabetes mellitus in older Han adults in China with leptin receptor gene rs1137100 and rs1137101 polymorphrism].

[PMID 31021458] Leptin -2548 G/A polymorphisms are associated to clinical progression of oral cancer and sensitive to oral tumorization in nonsmoking population.

[PMID 32774722 ] Investigation of Leptin and its receptor (LEPR) for single nucleotide polymorphisms in colorectal cancer: a case-control study involving 2,306 subjects.

[PMID 32983895 ] Combined donor-recipient genotypes of leptin receptor and adiponectin gene polymorphisms affect the incidence of complications after renal transplantation.