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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.

rs2167270

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr7:128241296 (GRCh38.p12) 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.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.371584 (46659/125568, TOPMED)
A=0.37400 (35109/93874, ALFA Project)
A=0.37113 (11615/31296, GnomAD) (+ 16 more)
A=0.3409 (1707/5008, 1000G)
A=0.3991 (1787/4478, Estonian)
A=0.3498 (1348/3854, ALSPAC)
A=0.3611 (1339/3708, TWINSUK)
A=0.2018 (591/2928, KOREAN)
A=0.3402 (643/1890, HapMap)
A=0.1949 (357/1832, Korea1K)
A=0.383 (382/998, GoNL)
A=0.403 (252/626, Chileans)
A=0.362 (217/600, NorthernSweden)
A=0.345 (184/534, MGP)
G=0.384 (96/250, SGDP_PRJ)
A=0.352 (76/216, Qatari)
A=0.224 (48/214, Vietnamese)
A=0.38 (15/40, GENOME_DK)
G=0.46 (12/26, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
LEP : 5 Prime UTR Variant
Publications
50 citations
Genomic View
See rs on genome
Help

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.p12 chr 7 NC_000007.14:g.128241296G>A
GRCh37.p13 chr 7 NC_000007.13:g.127881349G>A
LEP RefSeqGene NG_007450.1:g.5019G>A
LOC106728418 genomic region NG_044977.1:g.3041G>A
Gene: LEP, leptin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LEP transcript NM_000230.3:c.-39= N/A 5 Prime UTR Variant
LEP transcript variant X1 XM_005250340.5:c.-39= N/A 5 Prime UTR Variant
Help

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.

Allele: A (allele ID: 301785 )
ClinVar Accession Disease Names Clinical Significance
RCV000329981.1 Leptin deficiency or dysfunction Likely-Benign
RCV000375354.1 Monogenic Non-Syndromic Obesity Likely-Benign

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 155166 G=0.628153 A=0.371847
European Sub 128584 G=0.635756 A=0.364244
African Sub 9926 G=0.5900 A=0.4100
African Others Sub 338 G=0.562 A=0.438
African American Sub 9588 G=0.5909 A=0.4091
Asian Sub 672 G=0.796 A=0.204
East Asian Sub 510 G=0.802 A=0.198
Other Asian Sub 162 G=0.778 A=0.222
Latin American 1 Sub 884 G=0.666 A=0.334
Latin American 2 Sub 8392 G=0.5357 A=0.4643
South Asian Sub 196 G=0.658 A=0.342
Other Sub 6512 G=0.6319 A=0.3681


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 G=0.628416 A=0.371584
ALFA Total Global 93874 G=0.62600 A=0.37400
ALFA European Sub 76332 G=0.63747 A=0.36253
ALFA Latin American 2 Sub 7508 G=0.5361 A=0.4639
ALFA African Sub 6326 G=0.5854 A=0.4146
ALFA Other Sub 2686 G=0.6251 A=0.3749
ALFA Latin American 1 Sub 700 G=0.664 A=0.336
ALFA Asian Sub 252 G=0.774 A=0.226
ALFA South Asian Sub 70 G=0.56 A=0.44
gnomAD - Genomes Global Study-wide 31296 G=0.62887 A=0.37113
gnomAD - Genomes European Sub 18834 G=0.63534 A=0.36466
gnomAD - Genomes African Sub 8694 G=0.5929 A=0.4071
gnomAD - Genomes East Asian Sub 1548 G=0.7875 A=0.2125
gnomAD - Genomes Other Sub 1086 G=0.6344 A=0.3656
gnomAD - Genomes American Sub 846 G=0.566 A=0.434
gnomAD - Genomes Ashkenazi Jewish Sub 288 G=0.601 A=0.399
1000Genomes Global Study-wide 5008 G=0.6591 A=0.3409
1000Genomes African Sub 1322 G=0.5575 A=0.4425
1000Genomes East Asian Sub 1008 G=0.8026 A=0.1974
1000Genomes Europe Sub 1006 G=0.6302 A=0.3698
1000Genomes South Asian Sub 978 G=0.725 A=0.275
1000Genomes American Sub 694 G=0.594 A=0.406
Genetic variation in the Estonian population Estonian Study-wide 4478 G=0.6009 A=0.3991
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6502 A=0.3498
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6389 A=0.3611
KOREAN population from KRGDB KOREAN Study-wide 2928 G=0.7982 A=0.2018
HapMap Global Study-wide 1890 G=0.6598 A=0.3402
HapMap American Sub 770 G=0.645 A=0.355
HapMap African Sub 690 G=0.614 A=0.386
HapMap Asian Sub 254 G=0.819 A=0.181
HapMap Europe Sub 176 G=0.670 A=0.330
Korean Genome Project KOREAN Study-wide 1832 G=0.8051 A=0.1949
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.617 A=0.383
Chileans Chilean Study-wide 626 G=0.597 A=0.403
Northern Sweden ACPOP Study-wide 600 G=0.638 A=0.362
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.655 A=0.345
SGDP_PRJ Global Study-wide 250 G=0.384 A=0.616
Qatari Global Study-wide 216 G=0.648 A=0.352
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.776 A=0.224
The Danish reference pan genome Danish Study-wide 40 G=0.62 A=0.38
Siberian Global Study-wide 26 G=0.46 A=0.54
Help

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
GRCh38.p12 chr 7 NC_000007.14:g.128241296= NC_000007.14:g.128241296G>A
GRCh37.p13 chr 7 NC_000007.13:g.127881349= NC_000007.13:g.127881349G>A
LEP RefSeqGene NG_007450.1:g.5019= NG_007450.1:g.5019G>A
LEP transcript NM_000230.3:c.-39= NM_000230.3:c.-39G>A
LEP transcript NM_000230.2:c.-39= NM_000230.2:c.-39G>A
LOC106728418 genomic region NG_044977.1:g.3041= NG_044977.1:g.3041G>A
LEP transcript variant X1 XM_005250340.5:c.-39= XM_005250340.5:c.-39G>A
LEP transcript variant X1 XM_005250340.1:c.-39= XM_005250340.1:c.-39G>A
Help

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#.

95 SubSNP, 19 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3100707 Jun 15, 2001 (96)
2 YUSUKE ss3216192 Sep 28, 2001 (100)
3 TSC-CSHL ss5212337 Oct 08, 2002 (108)
4 PERLEGEN ss24468013 Sep 20, 2004 (123)
5 PGA-UW-FHCRC ss37042541 May 24, 2005 (125)
6 SNP500CANCER ss48295357 Mar 15, 2006 (126)
7 STEJUSTINE-REGGEN ss51854130 Mar 16, 2006 (126)
8 ILLUMINA ss75076879 Dec 07, 2007 (129)
9 AFFY ss76615564 Dec 08, 2007 (130)
10 BCMHGSC_JDW ss93763875 Mar 25, 2008 (129)
11 HUMANGENOME_JCVI ss98335234 Feb 04, 2009 (130)
12 BGI ss105572266 Feb 04, 2009 (130)
13 ILLUMINA-UK ss116304243 Feb 14, 2009 (130)
14 KRIBB_YJKIM ss119419479 Dec 01, 2009 (131)
15 ENSEMBL ss139379580 Dec 01, 2009 (131)
16 ENSEMBL ss142915827 Dec 01, 2009 (131)
17 GMI ss155481146 Dec 01, 2009 (131)
18 ILLUMINA ss160509609 Dec 01, 2009 (131)
19 ILLUMINA ss173154109 Jul 04, 2010 (132)
20 BUSHMAN ss198256045 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss208362068 Jul 04, 2010 (132)
22 1000GENOMES ss223327147 Jul 14, 2010 (132)
23 1000GENOMES ss234163776 Jul 15, 2010 (132)
24 1000GENOMES ss241078205 Jul 15, 2010 (132)
25 ILLUMINA ss244287491 Jul 04, 2010 (132)
26 BL ss254669213 May 09, 2011 (134)
27 GMI ss279526988 May 04, 2012 (137)
28 GMI ss285716860 Apr 25, 2013 (138)
29 PJP ss293964217 May 09, 2011 (134)
30 ILLUMINA ss480447524 May 04, 2012 (137)
31 ILLUMINA ss480461438 May 04, 2012 (137)
32 ILLUMINA ss481252967 Sep 08, 2015 (146)
33 ILLUMINA ss485021215 May 04, 2012 (137)
34 GSK-GENETICS ss491275973 May 04, 2012 (137)
35 ILLUMINA ss537048167 Sep 08, 2015 (146)
36 SSMP ss654707641 Apr 25, 2013 (138)
37 ILLUMINA ss778483625 Sep 08, 2015 (146)
38 ILLUMINA ss782956900 Sep 08, 2015 (146)
39 ILLUMINA ss783919046 Sep 08, 2015 (146)
40 ILLUMINA ss832213000 Sep 08, 2015 (146)
41 ILLUMINA ss833939528 Sep 08, 2015 (146)
42 EVA-GONL ss984790036 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1074976360 Aug 21, 2014 (142)
44 1000GENOMES ss1327110441 Aug 21, 2014 (142)
45 DDI ss1431276982 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1582398306 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1619201954 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1662195987 Apr 01, 2015 (144)
49 EVA_MGP ss1711179001 Apr 01, 2015 (144)
50 EVA_SVP ss1712986801 Apr 01, 2015 (144)
51 ILLUMINA ss1752663242 Sep 08, 2015 (146)
52 HAMMER_LAB ss1805215954 Sep 08, 2015 (146)
53 WEILL_CORNELL_DGM ss1928048034 Feb 12, 2016 (147)
54 JJLAB ss2024711856 Sep 14, 2016 (149)
55 USC_VALOUEV ss2152932793 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2297811190 Dec 20, 2016 (150)
57 TOPMED ss2467284596 Dec 20, 2016 (150)
58 SYSTEMSBIOZJU ss2626843354 Nov 08, 2017 (151)
59 ILLUMINA ss2634658814 Nov 08, 2017 (151)
60 ILLUMINA ss2635176467 Nov 08, 2017 (151)
61 GRF ss2708650817 Nov 08, 2017 (151)
62 GNOMAD ss2859034745 Nov 08, 2017 (151)
63 AFFY ss2986052302 Nov 08, 2017 (151)
64 SWEGEN ss3002021253 Nov 08, 2017 (151)
65 BIOINF_KMB_FNS_UNIBA ss3026145190 Nov 08, 2017 (151)
66 CSHL ss3347839567 Nov 08, 2017 (151)
67 TOPMED ss3544239659 Nov 08, 2017 (151)
68 ILLUMINA ss3629911595 Oct 12, 2018 (152)
69 ILLUMINA ss3632563157 Oct 12, 2018 (152)
70 ILLUMINA ss3633477582 Oct 12, 2018 (152)
71 ILLUMINA ss3634203209 Oct 12, 2018 (152)
72 ILLUMINA ss3635140982 Oct 12, 2018 (152)
73 ILLUMINA ss3635882629 Oct 12, 2018 (152)
74 ILLUMINA ss3636875557 Oct 12, 2018 (152)
75 ILLUMINA ss3637635673 Oct 12, 2018 (152)
76 ILLUMINA ss3638723137 Oct 12, 2018 (152)
77 ILLUMINA ss3640848274 Oct 12, 2018 (152)
78 ILLUMINA ss3643657041 Oct 12, 2018 (152)
79 OMUKHERJEE_ADBS ss3646363132 Oct 12, 2018 (152)
80 URBANLAB ss3648750439 Oct 12, 2018 (152)
81 EGCUT_WGS ss3669780660 Jul 13, 2019 (153)
82 EVA_DECODE ss3720676939 Jul 13, 2019 (153)
83 ACPOP ss3735064638 Jul 13, 2019 (153)
84 ILLUMINA ss3745440978 Jul 13, 2019 (153)
85 EVA ss3767152087 Jul 13, 2019 (153)
86 ILLUMINA ss3772933720 Jul 13, 2019 (153)
87 PACBIO ss3785955153 Jul 13, 2019 (153)
88 PACBIO ss3791234525 Jul 13, 2019 (153)
89 PACBIO ss3796114675 Jul 13, 2019 (153)
90 KHV_HUMAN_GENOMES ss3810322141 Jul 13, 2019 (153)
91 EVA ss3825728176 Apr 26, 2020 (154)
92 EVA ss3830816139 Apr 26, 2020 (154)
93 SGDP_PRJ ss3868383546 Apr 26, 2020 (154)
94 KRGDB ss3915728020 Apr 26, 2020 (154)
95 KOGIC ss3962563445 Apr 26, 2020 (154)
96 1000Genomes NC_000007.13 - 127881349 Oct 12, 2018 (152)
97 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 127881349 Oct 12, 2018 (152)
98 Chileans NC_000007.13 - 127881349 Apr 26, 2020 (154)
99 Genetic variation in the Estonian population NC_000007.13 - 127881349 Oct 12, 2018 (152)
100 The Danish reference pan genome NC_000007.13 - 127881349 Apr 26, 2020 (154)
101 gnomAD - Genomes NC_000007.13 - 127881349 Jul 13, 2019 (153)
102 Genome of the Netherlands Release 5 NC_000007.13 - 127881349 Apr 26, 2020 (154)
103 HapMap NC_000007.14 - 128241296 Apr 26, 2020 (154)
104 KOREAN population from KRGDB NC_000007.13 - 127881349 Apr 26, 2020 (154)
105 Korean Genome Project NC_000007.14 - 128241296 Apr 26, 2020 (154)
106 Medical Genome Project healthy controls from Spanish population NC_000007.13 - 127881349 Apr 26, 2020 (154)
107 Northern Sweden NC_000007.13 - 127881349 Jul 13, 2019 (153)
108 Qatari NC_000007.13 - 127881349 Apr 26, 2020 (154)
109 SGDP_PRJ NC_000007.13 - 127881349 Apr 26, 2020 (154)
110 Siberian NC_000007.13 - 127881349 Apr 26, 2020 (154)
111 TopMed NC_000007.14 - 128241296 Oct 12, 2018 (152)
112 UK 10K study - Twins NC_000007.13 - 127881349 Oct 12, 2018 (152)
113 A Vietnamese Genetic Variation Database NC_000007.13 - 127881349 Jul 13, 2019 (153)
114 dbGaP Population Frequency Project NC_000007.14 - 128241296 Apr 26, 2020 (154)
115 ClinVar RCV000329981.1 Oct 12, 2018 (152)
116 ClinVar RCV000375354.1 Oct 12, 2018 (152)
Help

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).

Associated ID History Updated (Build)
rs17533430 Oct 08, 2004 (123)
rs36219625 Oct 25, 2006 (127)
rs56514852 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss76615564, ss93763875, ss116304243, ss198256045, ss208362068, ss254669213, ss279526988, ss285716860, ss293964217, ss480447524, ss491275973, ss1712986801, ss2635176467, ss3643657041 NC_000007.12:127668584:G:A NC_000007.14:128241295:G:A (self)
39153172, 21784668, 419617, 15518908, 8563244, 107037161, 9721172, 22905414, 294761, 8349503, 10089964, 20400526, 5449147, 21784668, 4853710, ss223327147, ss234163776, ss241078205, ss480461438, ss481252967, ss485021215, ss537048167, ss654707641, ss778483625, ss782956900, ss783919046, ss832213000, ss833939528, ss984790036, ss1074976360, ss1327110441, ss1431276982, ss1582398306, ss1619201954, ss1662195987, ss1711179001, ss1752663242, ss1805215954, ss1928048034, ss2024711856, ss2152932793, ss2467284596, ss2626843354, ss2634658814, ss2708650817, ss2859034745, ss2986052302, ss3002021253, ss3347839567, ss3629911595, ss3632563157, ss3633477582, ss3634203209, ss3635140982, ss3635882629, ss3636875557, ss3637635673, ss3638723137, ss3640848274, ss3646363132, ss3669780660, ss3735064638, ss3745440978, ss3767152087, ss3772933720, ss3785955153, ss3791234525, ss3796114675, ss3825728176, ss3830816139, ss3868383546, ss3915728020 NC_000007.13:127881348:G:A NC_000007.14:128241295:G:A (self)
RCV000329981.1, RCV000375354.1, 3492535, 18941446, 375775244, 149371677, ss2297811190, ss3026145190, ss3544239659, ss3648750439, ss3720676939, ss3810322141, ss3962563445 NC_000007.14:128241295:G:A NC_000007.14:128241295:G:A (self)
ss3100707, ss3216192, ss5212337, ss24468013, ss37042541, ss48295357, ss51854130, ss75076879, ss98335234, ss105572266, ss119419479, ss139379580, ss142915827, ss155481146, ss160509609, ss173154109, ss244287491 NT_007933.15:65914191:G:A NC_000007.14:128241295:G:A (self)
Help

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

50 citations for rs2167270
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
18059035 Leptin and leptin receptor genotypes and colon cancer: gene-gene and gene-lifestyle interactions. Slattery ML et al. 2008 International journal of cancer
19035456 Adipokine genes and prostate cancer risk. Moore SC et al. 2009 International journal of cancer
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.
19593725 Association of maternally inherited GNAS alleles with African-American male birth weight. Adkins RM et al. 2010 International journal of pediatric obesity
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
20642810 Candidate molecular pathway genes related to appetite regulatory neural network, adipocyte homeostasis and obesity: results from the CARDIA Study. Friedlander Y et al. 2010 Annals of human genetics
20816195 Analyses of shared genetic factors between asthma and obesity in children. Melén E et al. 2010 The Journal of allergy and clinical immunology
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
21385539 Lack of association between LEP rs2167270 (19 G>A) polymorphism and disease susceptibility and cardiovascular disease in patients with rheumatoid arthritis. García-Bermúdez M et al. 2011 Clinical and experimental rheumatology
21512510 The effect of ponderal index at birth on the relationships between common LEP and LEPR polymorphisms and adiposity in adolescents. Labayen I et al. 2011 Obesity (Silver Spring, Md.)
21658613 Host genetics in follicular lymphoma. Cerhan JR et al. 2011 Best practice & research. Clinical haematology
21749726 Genome-wide mapping of imprinted differentially methylated regions by DNA methylation profiling of human placentas from triploidies. Yuen RK et al. 2011 Epigenetics & chromatin
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
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
22537818 Polymorphisms in adiposity-related genes are associated with age at menarche and menopause in breast cancer patients and healthy women. Kim KZ et al. 2012 Human reproduction (Oxford, England)
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
22666399 Tumor necrosis factor-α induced protein 8 polymorphism and risk of non-Hodgkin's lymphoma in a Chinese population: a case-control study. Zhang Y et al. 2012 PloS one
22910888 Role of adipokines in atherosclerosis: interferences with cardiovascular complications in rheumatic diseases. Scotece M et al. 2012 Mediators of inflammation
22927710 Genetic markers of cardiovascular disease in rheumatoid arthritis. Rodríguez-Rodríguez L et al. 2012 Mediators of inflammation
22975643 Leptin and leptin receptor genetic variants associate with habitual physical activity and the arm body composition response to resistance training. Walsh S et al. 2012 Gene
23026132 Resistance to antidepressant treatment is associated with polymorphisms in the leptin gene, decreased leptin mRNA expression, and decreased leptin serum levels. Kloiber S et al. 2013 European neuropsychopharmacology
23911897 Tissue-specific Leptin promoter DNA methylation is associated with maternal and infant perinatal factors. Lesseur C et al. 2013 Molecular and cellular endocrinology
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
26282401 Adiponectin and leptin gene polymorphisms in patients with post-transplant diabetes mellitus. Romanowski M et al. 2015 Pharmacogenomics
26833098 Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels. Kilpeläinen TO et al. 2016 Nature communications
26967244 Systematic meta-analyses of gene-specific genetic association studies in prostate cancer. Hao Q et al. 2016 Oncotarget
27186323 DNA methylation and genetic polymorphisms of the Leptin gene interact to influence lung function outcomes and asthma at 18 years of age. Mukherjee N et al. 2016 International journal of molecular epidemiology and genetics
27411394 Shared genetic variants between serum levels of high-density lipoprotein cholesterol and wheezing in a cohort of children from Cyprus. Yiallouros PK et al. 2016 Italian journal of pediatrics
27601774 Genetic variants influencing effectiveness of exercise training programmes in obesity - an overview of human studies. Leońska-Duniec A et al. 2016 Biology of sport
28050671 Adiponectin and leptin gene polymorphisms in women with gestational diabetes mellitus. Pawlik A et al. 2017 Journal of assisted reproduction and genetics
28244652 Association of leptin and leptin receptor gene polymorphisms with systemic lupus erythematosus in a Chinese population. Li HM et al. 2017 Journal of cellular and molecular medicine
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
29904569 The rs2167270 polymorphism of leptin gene is associated with atopic dermatitis. Banihani SA et al. 2018 Dermato-endocrinology
30137462 Candidate genes linking maternal nutrient exposure to offspring health via DNA methylation: a review of existing evidence in humans with specific focus on one-carbon metabolism. James P et al. 2018 International journal of epidemiology
30219158 Gender-Specific Association of Leptin and Adiponectin Genes With Multiple Sclerosis. Yousefian M et al. 2018 The American journal of the medical sciences
30379922 Leptin gene variants and colorectal cancer risk: Sex-specific associations. Chun KA et al. 2018 PloS one
30697798 Leptin rs2167270 G &gt; A (G19A) polymorphism may decrease the risk of cancer: A case-control study and meta-analysis involving 19 989 subjects. Yang J et al. 2019 Journal of cellular biochemistry
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
30935050 Associations of <i>ADIPOQ</i> and <i>LEP</i> Gene Variants with Energy Intake: A Systematic Review. Kroll C et al. 2019 Nutrients
31038568 Adipokine gene variability and plasma levels in patients with chronic periodontitis -a case-control study. Borilova Linhartova P et al. 2019 Brazilian oral research
31354816 Polymorphisms in Adipokines in Mexican Children with Obesity. Jiménez-Osorio AS et al. 2019 International journal of endocrinology
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
32004678 Associations of maternal diet and placenta leptin methylation. Daniels TE et al. 2020 Molecular and cellular endocrinology
32042833 Screening of <i>LEP</i> gene polymorphisms as a risk factor for obesity and type 2 diabetes in Iraqis. Almyah MK et al. 2019 Molecular biology research communications
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
Help

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

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post565+e32b82c