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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.


Current Build 155

Released April 9, 2021

Homo sapiens
chr7:128238730 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

G>A / G>C
Variation Type
SNV Single Nucleotide Variation
A=0.344739 (91249/264690, TOPMED)
A=0.28920 (5183/17922, ALFA)
G=0.22031 (3692/16758, 8.3KJPN) (+ 15 more)
A=0.4016 (2011/5008, 1000G)
A=0.4431 (1985/4480, Estonian)
A=0.4499 (1734/3854, ALSPAC)
A=0.4636 (1719/3708, TWINSUK)
G=0.2201 (645/2930, KOREAN)
A=0.3660 (688/1880, HapMap)
G=0.2211 (405/1832, Korea1K)
A=0.460 (459/998, GoNL)
A=0.463 (290/626, Chileans)
A=0.492 (295/600, NorthernSweden)
G=0.226 (90/398, SGDP_PRJ)
A=0.407 (88/216, Qatari)
G=0.354 (75/212, Vietnamese)
G=0.32 (16/50, Siberian)
G=0.47 (19/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC105375494 : 2KB Upstream Variant
117 citations
Genomic View
See rs on genome

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p13 chr 7 NC_000007.14:g.128238730G>A
GRCh38.p13 chr 7 NC_000007.14:g.128238730G>C
GRCh37.p13 chr 7 NC_000007.13:g.127878783G>A
GRCh37.p13 chr 7 NC_000007.13:g.127878783G>C
LEP RefSeqGene NG_007450.1:g.2453G>A
LEP RefSeqGene NG_007450.1:g.2453G>C
LOC106728418 genomic region NG_044977.1:g.475G>A
LOC106728418 genomic region NG_044977.1:g.475G>C
Gene: LOC105375494, uncharacterized LOC105375494 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC105375494 transcript XR_001745354.1:n. N/A Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

ALFA Allele Frequency (New)
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 17922 G=0.71080 A=0.28920, C=0.00000
European Sub 10526 G=0.65153 A=0.34847, C=0.00000
African Sub 3548 G=0.9628 A=0.0372, C=0.0000
African Others Sub 126 G=0.992 A=0.008, C=0.000
African American Sub 3422 G=0.9617 A=0.0383, C=0.0000
Asian Sub 88 G=0.33 A=0.67, C=0.00
East Asian Sub 56 G=0.30 A=0.70, C=0.00
Other Asian Sub 32 G=0.38 A=0.62, C=0.00
Latin American 1 Sub 204 G=0.760 A=0.240, C=0.000
Latin American 2 Sub 2336 G=0.6186 A=0.3814, C=0.0000
South Asian Sub 42 G=0.83 A=0.17, C=0.00
Other Sub 1178 G=0.6800 A=0.3200, C=0.0000


Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.655261 A=0.344739
8.3KJPN JAPANESE Study-wide 16758 G=0.22031 A=0.77969
1000Genomes Global Study-wide 5008 G=0.5984 A=0.4016
1000Genomes African Sub 1322 G=0.9682 A=0.0318
1000Genomes East Asian Sub 1008 G=0.2688 A=0.7312
1000Genomes Europe Sub 1006 G=0.5577 A=0.4423
1000Genomes South Asian Sub 978 G=0.486 A=0.514
1000Genomes American Sub 694 G=0.591 A=0.409
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.5569 A=0.4431
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5501 A=0.4499
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5364 A=0.4636
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.2201 A=0.7799
HapMap Global Study-wide 1880 G=0.6340 A=0.3660
HapMap American Sub 768 G=0.529 A=0.471
HapMap African Sub 682 G=0.930 A=0.070
HapMap Asian Sub 254 G=0.228 A=0.772
HapMap Europe Sub 176 G=0.534 A=0.466
Korean Genome Project KOREAN Study-wide 1832 G=0.2211 A=0.7789
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.540 A=0.460
Chileans Chilean Study-wide 626 G=0.537 A=0.463
Northern Sweden ACPOP Study-wide 600 G=0.508 A=0.492
SGDP_PRJ Global Study-wide 398 G=0.226 A=0.774
Qatari Global Study-wide 216 G=0.593 A=0.407
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.354 A=0.646
Siberian Global Study-wide 50 G=0.32 A=0.68
The Danish reference pan genome Danish Study-wide 40 G=0.47 A=0.53

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A C
GRCh38.p13 chr 7 NC_000007.14:g.128238730= NC_000007.14:g.128238730G>A NC_000007.14:g.128238730G>C
GRCh37.p13 chr 7 NC_000007.13:g.127878783= NC_000007.13:g.127878783G>A NC_000007.13:g.127878783G>C
LEP RefSeqGene NG_007450.1:g.2453= NG_007450.1:g.2453G>A NG_007450.1:g.2453G>C
LOC106728418 genomic region NG_044977.1:g.475= NG_044977.1:g.475G>A NG_044977.1:g.475G>C

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

62 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11884222 Jul 11, 2003 (116)
2 ABI ss42922293 Mar 14, 2006 (126)
3 AFFY ss76668625 Dec 07, 2007 (129)
4 HGSV ss77320315 Dec 07, 2007 (129)
5 BCMHGSC_JDW ss93763870 Mar 25, 2008 (129)
6 HUMANGENOME_JCVI ss98335230 Feb 05, 2009 (130)
7 KRIBB_YJKIM ss104965770 Feb 05, 2009 (130)
8 1000GENOMES ss112523799 Jan 25, 2009 (130)
9 ENSEMBL ss142915744 Dec 01, 2009 (131)
10 ENSEMBL ss143451074 Dec 01, 2009 (131)
11 GMI ss155481115 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss162705860 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss167098607 Jul 04, 2010 (132)
14 1000GENOMES ss234163768 Jul 15, 2010 (132)
15 1000GENOMES ss241078201 Jul 15, 2010 (132)
16 GMI ss279526981 May 04, 2012 (137)
17 PJP ss293964213 May 09, 2011 (134)
18 TISHKOFF ss560298684 Apr 25, 2013 (138)
19 SSMP ss654707625 Apr 25, 2013 (138)
20 EVA-GONL ss984790009 Aug 21, 2014 (142)
21 JMKIDD_LAB ss1074976342 Aug 21, 2014 (142)
22 1000GENOMES ss1327110316 Aug 21, 2014 (142)
23 DDI ss1431276977 Apr 01, 2015 (144)
24 EVA_GENOME_DK ss1582398295 Apr 01, 2015 (144)
25 EVA_DECODE ss1594378890 Apr 01, 2015 (144)
26 EVA_UK10K_ALSPAC ss1619201902 Apr 01, 2015 (144)
27 EVA_UK10K_TWINSUK ss1662195935 Apr 01, 2015 (144)
28 EVA_SVP ss1712986799 Apr 01, 2015 (144)
29 WEILL_CORNELL_DGM ss1928048006 Feb 12, 2016 (147)
30 ILLUMINA ss1959050106 Feb 12, 2016 (147)
31 GENOMED ss1970815137 Jul 19, 2016 (147)
32 JJLAB ss2024711839 Sep 14, 2016 (149)
33 USC_VALOUEV ss2152932777 Dec 20, 2016 (150)
34 HUMAN_LONGEVITY ss2297810985 Dec 20, 2016 (150)
35 TOPMED ss2467284394 Dec 20, 2016 (150)
36 TOPMED ss2467284395 Dec 20, 2016 (150)
37 SYSTEMSBIOZJU ss2626843349 Nov 08, 2017 (151)
38 GRF ss2708650806 Nov 08, 2017 (151)
39 ILLUMINA ss2711121030 Nov 08, 2017 (151)
40 GNOMAD ss2859034489 Nov 08, 2017 (151)
41 SWEGEN ss3002021216 Nov 08, 2017 (151)
42 ILLUMINA ss3022778107 Nov 08, 2017 (151)
43 BIOINF_KMB_FNS_UNIBA ss3026145184 Nov 08, 2017 (151)
44 CSHL ss3347839554 Nov 08, 2017 (151)
45 TOPMED ss3544239099 Nov 08, 2017 (151)
46 TOPMED ss3544239100 Nov 08, 2017 (151)
47 URBANLAB ss3648750435 Oct 12, 2018 (152)
48 ILLUMINA ss3653313178 Oct 12, 2018 (152)
49 EGCUT_WGS ss3669780621 Jul 13, 2019 (153)
50 EVA_DECODE ss3720676892 Jul 13, 2019 (153)
51 ILLUMINA ss3726480772 Jul 13, 2019 (153)
52 ACPOP ss3735064616 Jul 13, 2019 (153)
53 EVA ss3767152051 Jul 13, 2019 (153)
54 KHV_HUMAN_GENOMES ss3810322102 Jul 13, 2019 (153)
55 EVA ss3830816126 Apr 26, 2020 (154)
56 EVA ss3838906762 Apr 26, 2020 (154)
57 EVA ss3844363111 Apr 26, 2020 (154)
58 SGDP_PRJ ss3868383489 Apr 26, 2020 (154)
59 KRGDB ss3915727973 Apr 26, 2020 (154)
60 KOGIC ss3962563391 Apr 26, 2020 (154)
61 TOPMED ss4763545226 Apr 26, 2021 (155)
62 TOMMO_GENOMICS ss5185550489 Apr 26, 2021 (155)
63 1000Genomes NC_000007.13 - 127878783 Oct 12, 2018 (152)
64 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 127878783 Oct 12, 2018 (152)
65 Chileans NC_000007.13 - 127878783 Apr 26, 2020 (154)
66 Genetic variation in the Estonian population NC_000007.13 - 127878783 Oct 12, 2018 (152)
67 The Danish reference pan genome NC_000007.13 - 127878783 Apr 26, 2020 (154)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 276465484 (NC_000007.14:128238729:G:A 49280/140036)
Row 276465485 (NC_000007.14:128238729:G:C 6/140074)

- Apr 26, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 276465484 (NC_000007.14:128238729:G:A 49280/140036)
Row 276465485 (NC_000007.14:128238729:G:C 6/140074)

- Apr 26, 2021 (155)
70 Genome of the Netherlands Release 5 NC_000007.13 - 127878783 Apr 26, 2020 (154)
71 HapMap NC_000007.14 - 128238730 Apr 26, 2020 (154)
72 KOREAN population from KRGDB NC_000007.13 - 127878783 Apr 26, 2020 (154)
73 Korean Genome Project NC_000007.14 - 128238730 Apr 26, 2020 (154)
74 Northern Sweden NC_000007.13 - 127878783 Jul 13, 2019 (153)
75 Qatari NC_000007.13 - 127878783 Apr 26, 2020 (154)
76 SGDP_PRJ NC_000007.13 - 127878783 Apr 26, 2020 (154)
77 Siberian NC_000007.13 - 127878783 Apr 26, 2020 (154)
78 8.3KJPN NC_000007.13 - 127878783 Apr 26, 2021 (155)
79 TopMed NC_000007.14 - 128238730 Apr 26, 2021 (155)
80 UK 10K study - Twins NC_000007.13 - 127878783 Oct 12, 2018 (152)
81 A Vietnamese Genetic Variation Database NC_000007.13 - 127878783 Jul 13, 2019 (153)
82 ALFA NC_000007.14 - 128238730 Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77320315 NC_000007.11:127472733:G:A NC_000007.14:128238729:G:A (self)
ss76668625, ss93763870, ss112523799, ss162705860, ss167098607, ss279526981, ss293964213, ss1594378890, ss1712986799 NC_000007.12:127666018:G:A NC_000007.14:128238729:G:A (self)
39153042, 21784613, 419616, 15518869, 8563233, 9721147, 22905367, 8349481, 10089936, 20400469, 5449131, 43519796, 21784613, 4853699, ss234163768, ss241078201, ss560298684, ss654707625, ss984790009, ss1074976342, ss1327110316, ss1431276977, ss1582398295, ss1619201902, ss1662195935, ss1928048006, ss1959050106, ss1970815137, ss2024711839, ss2152932777, ss2467284394, ss2626843349, ss2708650806, ss2711121030, ss2859034489, ss3002021216, ss3022778107, ss3347839554, ss3653313178, ss3669780621, ss3735064616, ss3767152051, ss3830816126, ss3838906762, ss3868383489, ss3915727973, ss5185550489 NC_000007.13:127878782:G:A NC_000007.14:128238729:G:A (self)
3492527, 18941392, 375774743, 600922785, 4663496211, ss2297810985, ss3026145184, ss3544239099, ss3648750435, ss3720676892, ss3726480772, ss3810322102, ss3844363111, ss3962563391, ss4763545226 NC_000007.14:128238729:G:A NC_000007.14:128238729:G:A (self)
ss11884222 NT_007933.12:53054931:G:A NC_000007.14:128238729:G:A (self)
ss42922293, ss98335230, ss104965770, ss142915744, ss143451074, ss155481115 NT_007933.15:65911625:G:A NC_000007.14:128238729:G:A (self)
ss2467284395, ss2859034489 NC_000007.13:127878782:G:C NC_000007.14:128238729:G:C (self)
4663496211, ss3544239100 NC_000007.14:128238729:G:C NC_000007.14:128238729:G:C (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

117 citations for rs7799039
PMID Title Author Year Journal
15197684 Common variants in the 5' region of the leptin gene are associated with body mass index in men from the National Heart, Lung, and Blood Institute Family Heart Study. Jiang Y et al. 2004 American journal of human genetics
17879022 Are common leptin promoter polymorphisms associated with restenosis after coronary stenting? Bienertová-Vasků JA et al. 2007 Heart and vessels
18059035 Leptin and leptin receptor genotypes and colon cancer: gene-gene and gene-lifestyle interactions. Slattery ML et al. 2008 International journal of cancer
18923972 The -2548G/A LEP polymorphism is associated with blood pressure in Tunisian obese patients. Ben Ali S et al. 2008 Blood pressure
18992263 Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways. Slattery ML et al. 2009 Mutation research
19035456 Adipokine genes and prostate cancer risk. Moore SC et al. 2009 International journal of cancer
19142102 Polymorphisms of the LEP- and LEPR gene and obesity in patients using antipsychotic medication. Gregoor JG et al. 2009 Journal of clinical psychopharmacology
19204185 Leptin is associated with blood pressure and hypertension in women from the National Heart, Lung, and Blood Institute Family Heart Study. Ma D et al. 2009 Hypertension (Dallas, Tex.
19337797 Association between variants in the genes for leptin, leptin receptor, and proopiomelanocortin with chronic heart failure in the Czech population. Bienertová-Vasků JA et al. 2009 Heart and vessels
19593725 Association of maternally inherited GNAS alleles with African-American male birth weight. Adkins RM et al. 2010 International journal of pediatric obesity
19604093 Genetic polymorphisms, their allele combinations and IFN-beta treatment response in Irish multiple sclerosis patients. O'Doherty C et al. 2009 Pharmacogenomics
19623271 A Bayesian hierarchical model for analysis of SNP diversity in multilocus, multipopulation samples. Guo F et al. 2009 Journal of the American Statistical Association
19942621 An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6. Fairfax BP et al. 2010 Human molecular genetics
20140086 Genetic variation at selected SNPs in the leptin gene and association of alleles with markers of kidney disease in a Xhosa population of South Africa. Okpechi IG et al. 2010 PloS one
20183928 The Q223R polymorphism in LEPR is associated with obesity in Pacific Islanders. Furusawa T et al. 2010 Human genetics
20201642 Associations of polymorphisms in adiponectin and leptin genes with men's longevity. Khabour OF et al. 2010 The aging male
20504252 Association of HTR2C, but not LEP or INSIG2, genes with antipsychotic-induced weight gain in a German sample. Opgen-Rhein C et al. 2010 Pharmacogenomics
20517895 Genetic variations of leptin and leptin receptor are associated with body composition changes in response to physical training. Huuskonen A et al. 2010 Cell biochemistry and function
20562674 Association between LEP and LEPR gene polymorphisms and dyslipidemia in patients using atypical antipsychotic medication. Gregoor JG et al. 2010 Psychiatric genetics
21185230 Antipsychotic drugs and obesity. Correll CU et al. 2011 Trends in molecular medicine
21204206 Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population. Carter TC et al. 2011 American journal of medical genetics. Part A
21658613 Host genetics in follicular lymphoma. Cerhan JR et al. 2011 Best practice & research. Clinical haematology
21755292 Effect of three common SNPs in 5'-flanking region of LEP and ADIPOQ genes on their expression in Polish obese children and adolescents. Cieslak J et al. 2012 Molecular biology reports
21773001 Variations in Adipokine Genes AdipoQ, Lep, and LepR are Associated with Risk for Obesity-Related Metabolic Disease: The Modulatory Role of Gene-Nutrient Interactions. Enns JE et al. 2011 Journal of obesity
21787190 Pharmacogenetics of leptin in antipsychotic-associated weight gain and obesity-related complications. Lee AK et al. 2011 Pharmacogenomics
21791631 Pharmacogenetic angiogenesis profiling for first-line Bevacizumab plus oxaliplatin-based chemotherapy in patients with metastatic colorectal cancer. Gerger A et al. 2011 Clinical cancer research
21926355 A polymorphism in the leptin gene promoter is associated with anemia in patients with HIV disease. Vanasse GJ et al. 2011 Blood
21947707 Leptin and leptin receptor genes in relation to premenopausal breast cancer incidence and grade in Caucasian women. Gu F et al. 2012 Breast cancer research and treatment
21992066 Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers. Thomas PE et al. 2011 BMC bioinformatics
22020349 Polymorphisms of INSIG2, MC4R, and LEP are associated with obesity- and metabolic-related traits in schizophrenic patients. Kuo PH et al. 2011 Journal of clinical psychopharmacology
22426215 Association study of polymorphisms in leptin and leptin receptor genes with antipsychotic-induced body weight gain. Brandl EJ et al. 2012 Progress in neuro-psychopharmacology & biological psychiatry
22523667 The role of leptin in antipsychotic-induced weight gain: genetic and non-genetic factors. Panariello F et al. 2012 Journal of obesity
22614171 Appetite regulation genes are associated with body mass index in black South African adolescents: a genetic association study. Lombard Z et al. 2012 BMJ open
22669627 Polymorphisms in LEP and NPY genes modify the response to soluble fibre Plantago ovata husk intake on cardiovascular risk biomarkers. Crescenti A et al. 2013 Genes & nutrition
22695700 The genetic epidemiology of idiopathic scoliosis. Gorman KF et al. 2012 European spine journal
23176367 Association of genome variations in the renin-angiotensin system with physical performance. Sgourou A et al. 2012 Human genomics
23284729 Aerobic fitness does not modify the effect of FTO variation on body composition traits. Huuskonen A et al. 2012 PloS one
23433430 The impact of obesity-related SNP on appetite and energy intake. Dougkas A et al. 2013 The British journal of nutrition
23754448 LEP gene variant is associated with prostate cancer but not with colorectal cancer. He J et al. 2013 Tumour biology
23799528 Moderation of antipsychotic-induced weight gain by energy balance gene variants in the RUPP autism network risperidone studies. Nurmi EL et al. 2013 Translational psychiatry
23875062 The methylation of the LEPR/LEPROT genotype at the promoter and body regions influence concentrations of leptin in girls and BMI at age 18 years if their mother smoked during pregnancy. Yousefi M et al. 2013 International journal of molecular epidemiology and genetics
23902348 A study of forty-seven single nucleotide polymorphisms among recurrent miscarriage using classification and regression tree analysis. Parveen F et al. 2013 American journal of reproductive immunology (New York, N.Y.
23925522 Association of genetic variants of ghrelin, leptin and UCP2 with malnutrition inflammation syndrome and survival in end-stage renal disease patients. Sharma R et al. 2013 Genes & nutrition
24625355 Genetic variants of estrogen beta and leptin receptors may cause gynecomastia in adolescent. Eren E et al. 2014 Gene
24889212 Systematic review: interactions between aspirin, and other nonsteroidal anti-inflammatory drugs, and polymorphisms in relation to colorectal cancer. Andersen V et al. 2014 Alimentary pharmacology & therapeutics
24947733 Leptin and leptin receptor gene polymorphisms and their association with plasma leptin levels and obesity in a multi-ethnic Malaysian suburban population. Fan SH et al. 2014 Journal of physiological anthropology
25284335 Association study of the HTR2C, leptin and adiponectin genes and serum marker analyses in clozapine treated long-term patients with schizophrenia. Klemettilä JP et al. 2015 European psychiatry
26192702 ADIPOQ -11377C>G Polymorphism Increases the Risk of Adipokine Abnormalities and Child Obesity Regardless of Dietary Intake. Gajewska J et al. 2016 Journal of pediatric gastroenterology and nutrition
26317037 In Search of Biomarkers for Idiopathic Scoliosis: Leptin and BMP4 Functional Polymorphisms. Nikolova S et al. 2015 Journal of biomarkers
26407154 Evaluation of CYP17A1 and LEP Gene Polymorphisms in Breast Cancer. Karakus N et al. 2015 Oncology research and treatment
26833098 Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels. Kilpeläinen TO et al. 2016 Nature communications
26880915 Pharmacogenetics of Risperidone and Cardiovascular Risk in Children and Adolescents. Dos Santos-Júnior A et al. 2016 International journal of endocrinology
26915772 The Relationship Between Gene Polymorphism of Leptin and Leptin Receptor and Growth Hormone Deficiency. He J et al. 2016 Medical science monitor
27073425 Candidate gene polymorphisms and risk of psoriasis: A pilot study. Villarreal-Martínez A et al. 2016 Experimental and therapeutic medicine
27217270 Pharmacogenetic Associations of Antipsychotic Drug-Related Weight Gain: A Systematic Review and Meta-analysis. Zhang JP et al. 2016 Schizophrenia bulletin
27240396 Analysis of the Relationship between Estradiol and Follicle-Stimulating Hormone Concentrations and Polymorphisms of Apolipoprotein E and LeptinGenes in Women Post-Menopause. Rył A et al. 2016 International journal of environmental research and public health
27240401 Complementary Effects of Genetic Variations in LEPR on Body Composition and Soluble Leptin Receptor Concentration after 3-Month Lifestyle Intervention in Prepubertal Obese Children. Gajewska J et al. 2016 Nutrients
27310420 Effects of leptin and leptin receptor SNPs on clinical- and metabolic-related traits in apparent treatment-resistant hypertension. de Faria AP et al. 2017 Blood pressure
27392994 Association of ADIPOQ, LEP, and FTO gene polymorphisms with large for gestational age infants. Kroll C et al. 2017 American journal of human biology
27393653 Maternal and neonatal leptin and leptin receptor polymorphisms associated with preterm birth. Salem H et al. 2016 Gene
27555891 Pharmacogenetic studies update in type 2 diabetes mellitus. Singh S et al. 2016 World journal of diabetes
27694792 Effect of miRNA-27a and Leptin Polymorphisms on Risk of Recurrent Spontaneous Abortion. Wang CY et al. 2016 Medical science monitor
27703473 Gender Differences in Adipocyte Metabolism and Liver Cancer Progression. Cheung OK et al. 2016 Frontiers in genetics
27703650 Genetic Variations in <i>Lep</i>tin and <i>Lep</i>tin Receptor and Susceptibility to Colorectal Cancer and Obesity. Mahmoudi T et al. 2016 Iranian journal of cancer prevention
28051281 Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion. Müller A et al. 2016 Croatian medical journal
28195351 Association of ADIPOQ, leptin, LEPR, and resistin polymorphisms with obesity parameters in Hammam Sousse Sahloul Heart Study. Zayani N et al. 2017 Journal of clinical laboratory analysis
28350535 Relationship between polymorphisms in the CRP, LEP and LEPR genes and high sensitivity C-reactive protein levels in Spanish children. Navarro P et al. 2017 Clinical chemistry and laboratory medicine
28363002 Leptin (rs7799039) and solute carrier family 30 zinc transporter (rs13266634) polymorphisms in Euro-Brazilian pregnant women with gestational diabetes. Teleginski A et al. 2017 Genetics and molecular research
28416193 LEP rs7799039, LEPR rs1137101, and ADIPOQ rs2241766 and 1501299 Polymorphisms Are Associated With Obesity and Chemotherapy Response in Mexican Women With Breast Cancer. Méndez-Hernández A et al. 2017 Clinical breast cancer
28452232 Genetic polymorphisms of IL-23R (rs7517847) and LEP (rs7799039) among Egyptian patients with hepatocellular carcinoma. Amer T et al. 2017 Archives of physiology and biochemistry
28533660 Genes, emotions and gut microbiota: The next frontier for the gastroenterologist. Panduro A et al. 2017 World journal of gastroenterology
28592099 [Study of the association between polymorphism of persistent obesity, human leptin gene/leptin receptor gene and molecular subtypes of breast cancer]. Yuan XL et al. 2017 Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]
28723535 Serum Adiponectin Predicts Cancer-specific Survival of Patients with Renal Cell Carcinoma. de Martino M et al. 2016 European urology focus
28938640 Association of two obesity-related gene polymorphisms LEPG2548A rs7799039 and LEPRQ223R rs1137101 with the risk of breast cancer. Luan H et al. 2017 Oncotarget
28975585 Polymorphisms in Genes Involved in the Leptin-Melanocortin Pathway are Associated with Obesity-Related Cardiometabolic Alterations in a Southern Chilean Population. Manriquez V et al. 2018 Molecular diagnosis & therapy
28977211 Association of 5-HT2C (rs3813929) and UCP3 (rs1800849) gene polymorphisms with type 2 diabetes in obese women candidates for bariatric surgery. Schnor NPP et al. 2017 Archives of endocrinology and metabolism
29064512 Adiponectin promoter polymorphisms are predictors of lipid profile improvement after bariatric surgery. Gasparotto AS et al. 2017 Genetics and molecular biology
29241578 Polymorphisms in the leptin (rs7799039) gene are associated with an increased risk of excessive gestational weight gain but not with leptin concentration during pregnancy. Martins MC et al. 2017 Nutrition research (New York, N.Y.)
29312594 Investigation of <i>TCF7L2, LEP</i> and <i>LEPR</i> polymorphisms with esophageal squamous cell carcinomas. Qiu H et al. 2017 Oncotarget
29369497 Pharmacogenetics of Risperidone-Induced Insulin Resistance in Children and Adolescents with Autism Spectrum Disorder. Sukasem C et al. 2018 Basic & clinical pharmacology & toxicology
29412799 Correlation between serum leptin and its gene expression to the anthropometric measures in overweight and obese children. Eldosouky MK et al. 2018 Cellular and molecular biology (Noisy-le-Grand, France)
29441581 Genetic polymorphisms of HTR2C, LEP and LEPR on metabolic syndromes in patients treated with atypical antipsychotic drugs. Puangpetch A et al. 2018 The Journal of pharmacy and pharmacology
29695916 Investigation of <i>LEP</i> and <i>LEPR</i> polymorphisms with the risk of hepatocellular carcinoma: a case-control study in Eastern Chinese Han population. Zhang S et al. 2018 OncoTargets and therapy
29872305 Association between leptin gene rs7799039 polymorphism and lipid profile changes induced by isotretinoin treatment in acne patients. Khabour OF et al. 2018 Therapeutics and clinical risk management
29883719 Association of polymorphisms of leptin, leptin receptor and apelin receptor genes with susceptibility to coronary artery disease and hypertension. Nowzari Z et al. 2018 Life sciences
29893663 Associations between obesity candidate gene polymorphisms (fat mass and obesity-associated (FTO), melanocortin-4 receptor (MC4R), leptin (LEP) and leptin receptor (LEPR)) and dietary intake in pregnant women. Martins MC et al. 2018 The British journal of nutrition
29904569 The rs2167270 polymorphism of leptin gene is associated with atopic dermatitis. Banihani SA et al. 2018 Dermato-endocrinology
30219158 Gender-Specific Association of Leptin and Adiponectin Genes With Multiple Sclerosis. Yousefian M et al. 2018 The American journal of the medical sciences
30237658 Association between gene polymorphisms and obesity and physical fitness in Korean children. Kim HJ et al. 2018 Biology of sport
30397599 Associations between the <i>LEP</i> -2548G/A Promoter and Baseline Weight and between <i>LEPR</i> Gln223Arg and Lys656Asn Variants and Change in BMI <i>z</i> Scores in Arab Children and Adolescents Treated with Risperidone. Almandil NB et al. 2018 Molecular neuropsychiatry
30554862 Leptin gene polymorphisms are associated with weight gain during lithium augmentation in patients with major depression. Bopp SK et al. 2019 European neuropsychopharmacology
30607769 Pharmacogenetic Correlates of Antipsychotic-Induced Weight Gain in the Chinese Population. Luo C et al. 2019 Neuroscience bulletin
30721746 Circulating leptin concentration, LEP gene variants and haplotypes, and polycystic ovary syndrome in Bahraini and Tunisian Arab women. Dallel M et al. 2019 Gene
30764545 Common Polymorphisms Linked to Obesity and Cardiovascular Disease in Europeans and Asians are Associated with Type 2 Diabetes in Mexican Mestizos. Jiménez-Osorio AS et al. 2019 Medicina (Kaunas, Lithuania)
30935050 Associations of <i>ADIPOQ</i> and <i>LEP</i> Gene Variants with Energy Intake: A Systematic Review. Kroll C et al. 2019 Nutrients
31016164 Polymorphic Analysis of Leptin Promoter in Obese/diabetic Subjects in Kashmiri Population. Dar R et al. 2019 Indian journal of endocrinology and metabolism
31021458 Leptin -2548 G/A polymorphisms are associated to clinical progression of oral cancer and sensitive to oral tumorization in nonsmoking population. Hung WC et al. 2019 Journal of cellular biochemistry
31113873 Associations of leptin and leptin receptor genetic variants with coronary artery disease: a meta-analysis. Xiao P et al. 2019 Bioscience reports
31114233 Leptin rs7799039 (G2548A) polymorphism is associated with cancer risk: a meta-analysis involving 25,799 subjects. Tang W et al. 2019 OncoTargets and therapy
31292750 Leptin gene polymorphism (rs7799039; G2548A) is associated with changes in serum lipid concentrations during pregnancy: a prospective cohort study. Farias DR et al. 2020 European journal of nutrition
31496784 Association between polymorphisms of <i>LEP, LEPR, DRD2, HTR2A</i> and <i>HTR2C</i> genes and risperidone- or clozapine-induced hyperglycemia. Puangpetch A et al. 2019 Pharmacogenomics and personalized medicine
31538300 Association of single nucleotide polymorphisms of adiponectin and leptin genes with breast cancer. Geriki S et al. 2019 Molecular biology reports
31563075 Leptin rs7799039 polymorphism is associated with multiple sclerosis risk in Kuwait. Dashti M et al. 2019 Multiple sclerosis and related disorders
31766143 Candidate Gene and Genome-Wide Association Studies for Circulating Leptin Levels Reveal Population and Sex-Specific Associations in High Cardiovascular Risk Mediterranean Subjects. Ortega-Azorín C et al. 2019 Nutrients
31809944 Association of LEP-rs7799039 and ADIPOQ-rs2241766 polymorphisms with sleep duration in preschool age children. Kroll C et al. 2020 Sleep medicine
31880873 The Leptin Gene rs7799039 Modulates the Prevalence of Posttraumatic Stress Disorder After an Earthquake in Han Chinese Adolescents. Yang M et al. 2019 The Journal of clinical psychiatry
31914480 Modification effect of sex and obesity on the correlation of LEP polymorphisms with leptin levels in Taiwanese obese women. Duan DM et al. 2020 Molecular genetics & genomic medicine
32049202 Association of leptin and leptin receptor polymorphisms with coronary artery disease in a North Chinese Han population. Wang H et al. 2020 Revista da Sociedade Brasileira de Medicina Tropical
32087448 EPB41L4A and LEP gene polymorphisms are associated with antipsychotic-induced QTc interval prolongation in Han Chinese. Cao H et al. 2020 Psychiatry research
32272684 The Relationship Between Selected CNR1, MC4R, LEP, FTO and VDR Gene Polymorphisms and Several Basic Toxicological Parameters Among Persons Occupationally Exposed to Arsenic, Cadmium and Lead. Matys T et al. 2020 Journal of clinical medicine
32335267 Association between the -2548G/A polymorphism of the leptin gene and antipsychotic-induced weight gain: Analysis of the CATIE sample and meta-analysis. Yoshida K et al. 2020 Progress in neuro-psychopharmacology & biological psychiatry
32512158 Association analysis of polymorphisms in LEP (rs7799039 and rs2167270) and LEPR (rs1137101) gene towards the development of type 2 diabetes in North Indian Punjabi population. Bains V et al. 2020 Gene
32693844 Adiponectin and leptin gene variants and their effects on body weight trajectories in children from birth to 6 years of age: the PREDI Study. Kroll C et al. 2021 The British journal of nutrition
32885526 Leptin gene polymorphism (rs 7799039;G2548A) is associated with changes in lipid profile during a partial meal-replacement hypocaloric diet. Primo D et al. 2021 Journal of human nutrition and dietetics
33256658 The association of leptin and adiponectin with hepatocellular carcinoma risk and prognosis: a combination of traditional, survival, and dose-response meta-analysis. Zhang L et al. 2020 BMC cancer
33450350 Association study of rs7799039, rs1137101 and rs8192678 gene variants with disease susceptibility/severity and corresponding LEP, LEPR and PGC1A gene expression in multiple sclerosis. Kolić I et al. 2021 Gene

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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Software version is: 2.0.1.post593+28e45f6