Name: rs9436301
Published: September 21, 2022
License: Open Access

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.

rs9436301

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:65430244 (GRCh38.p14) 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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.295466 (78207/264690, TOPMED)
C=0.252485 (63560/251738, ALFA)
C=0.286293 (40097/140056, GnomAD) (+ 21 more)
C=0.29478 (23130/78466, PAGE_STUDY)
C=0.05966 (1686/28258, 14KJPN)
C=0.06032 (1011/16760, 8.3KJPN)
C=0.2872 (1839/6404, 1000G_30x)
C=0.2788 (1396/5008, 1000G)
C=0.2353 (1054/4480, Estonian)
C=0.2561 (987/3854, ALSPAC)
C=0.2694 (999/3708, TWINSUK)
C=0.0925 (271/2930, KOREAN)
C=0.2590 (490/1892, HapMap)
C=0.0852 (156/1832, Korea1K)
C=0.233 (233/998, GoNL)
C=0.126 (96/764, PRJEB37584)
C=0.193 (116/600, NorthernSweden)
C=0.002 (1/534, MGP)
C=0.417 (90/216, Qatari)
T=0.394 (85/216, SGDP_PRJ)
C=0.121 (26/214, Vietnamese)
C=0.28 (11/40, GENOME_DK)
T=0.50 (11/22, Siberian)
C=0.50 (11/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LEPR : Intron Variant
LEPROT : Intron Variant
Publications: 4 citations
Genomic View: See rs on genome

ALFA Allele Frequency
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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	256772	T=0.746845	C=0.253155
European	Sub	226394	T=0.751685	C=0.248315
African	Sub	9108	T=0.6140	C=0.3860
African Others	Sub	350	T=0.560	C=0.440
African American	Sub	8758	T=0.6161	C=0.3839
Asian	Sub	3854	T=0.8988	C=0.1012
East Asian	Sub	3128	T=0.8999	C=0.1001
Other Asian	Sub	726	T=0.894	C=0.106
Latin American 1	Sub	1040	T=0.7202	C=0.2798
Latin American 2	Sub	6590	T=0.7141	C=0.2859
South Asian	Sub	366	T=0.699	C=0.301
Other	Sub	9420	T=0.7245	C=0.2755

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.704534	C=0.295466
Allele Frequency Aggregator	Total	Global	251738	T=0.747515	C=0.252485
Allele Frequency Aggregator	European	Sub	223300	T=0.751684	C=0.248316
Allele Frequency Aggregator	Other	Sub	8620	T=0.7259	C=0.2741
Allele Frequency Aggregator	African	Sub	7968	T=0.6143	C=0.3857
Allele Frequency Aggregator	Latin American 2	Sub	6590	T=0.7141	C=0.2859
Allele Frequency Aggregator	Asian	Sub	3854	T=0.8988	C=0.1012
Allele Frequency Aggregator	Latin American 1	Sub	1040	T=0.7202	C=0.2798
Allele Frequency Aggregator	South Asian	Sub	366	T=0.699	C=0.301
gnomAD - Genomes	Global	Study-wide	140056	T=0.713707	C=0.286293
gnomAD - Genomes	European	Sub	75892	T=0.76145	C=0.23855
gnomAD - Genomes	African	Sub	41926	T=0.60740	C=0.39260
gnomAD - Genomes	American	Sub	13642	T=0.72475	C=0.27525
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.7416	C=0.2584
gnomAD - Genomes	East Asian	Sub	3126	T=0.8804	C=0.1196
gnomAD - Genomes	Other	Sub	2150	T=0.7460	C=0.2540
The PAGE Study	Global	Study-wide	78466	T=0.70522	C=0.29478
The PAGE Study	AfricanAmerican	Sub	32440	T=0.60740	C=0.39260
The PAGE Study	Mexican	Sub	10772	T=0.71185	C=0.28815
The PAGE Study	Asian	Sub	8298	T=0.9275	C=0.0725
The PAGE Study	PuertoRican	Sub	7880	T=0.7326	C=0.2674
The PAGE Study	NativeHawaiian	Sub	4522	T=0.8987	C=0.1013
The PAGE Study	Cuban	Sub	4214	T=0.7402	C=0.2598
The PAGE Study	Dominican	Sub	3818	T=0.6928	C=0.3072
The PAGE Study	CentralAmerican	Sub	2440	T=0.7094	C=0.2906
The PAGE Study	SouthAmerican	Sub	1976	T=0.7348	C=0.2652
The PAGE Study	NativeAmerican	Sub	1256	T=0.7460	C=0.2540
The PAGE Study	SouthAsian	Sub	850	T=0.644	C=0.356
14KJPN	JAPANESE	Study-wide	28258	T=0.94034	C=0.05966
8.3KJPN	JAPANESE	Study-wide	16760	T=0.93968	C=0.06032
1000Genomes_30x	Global	Study-wide	6404	T=0.7128	C=0.2872
1000Genomes_30x	African	Sub	1786	T=0.5924	C=0.4076
1000Genomes_30x	Europe	Sub	1266	T=0.7662	C=0.2338
1000Genomes_30x	South Asian	Sub	1202	T=0.6639	C=0.3361
1000Genomes_30x	East Asian	Sub	1170	T=0.8735	C=0.1265
1000Genomes_30x	American	Sub	980	T=0.732	C=0.268
1000Genomes	Global	Study-wide	5008	T=0.7212	C=0.2788
1000Genomes	African	Sub	1322	T=0.6051	C=0.3949
1000Genomes	East Asian	Sub	1008	T=0.8780	C=0.1220
1000Genomes	Europe	Sub	1006	T=0.7734	C=0.2266
1000Genomes	South Asian	Sub	978	T=0.658	C=0.342
1000Genomes	American	Sub	694	T=0.728	C=0.272
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7647	C=0.2353
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7439	C=0.2561
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7306	C=0.2694
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.9075	C=0.0925
HapMap	Global	Study-wide	1892	T=0.7410	C=0.2590
HapMap	American	Sub	770	T=0.745	C=0.255
HapMap	African	Sub	692	T=0.679	C=0.321
HapMap	Asian	Sub	254	T=0.906	C=0.094
HapMap	Europe	Sub	176	T=0.727	C=0.273
Korean Genome Project	KOREAN	Study-wide	1832	T=0.9148	C=0.0852
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.767	C=0.233
CNV burdens in cranial meningiomas	Global	Study-wide	764	T=0.874	C=0.126
CNV burdens in cranial meningiomas	CRM	Sub	764	T=0.874	C=0.126
Northern Sweden	ACPOP	Study-wide	600	T=0.807	C=0.193
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.998	C=0.002
Qatari	Global	Study-wide	216	T=0.583	C=0.417
SGDP_PRJ	Global	Study-wide	216	T=0.394	C=0.606
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.879	C=0.121
The Danish reference pan genome	Danish	Study-wide	40	T=0.72	C=0.28
Siberian	Global	Study-wide	22	T=0.50	C=0.50

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.p14 chr 1	NC_000001.11:g.65430244T>C
GRCh37.p13 chr 1	NC_000001.10:g.65895927T>C
LEPR RefSeqGene (LRG_283)	NG_015831.2:g.14680T>C

Gene: LEPR, leptin receptor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LEPR transcript variant 3	NM_001003679.3:c.-21+4866… NM_001003679.3:c.-21+4866T>C	N/A	Intron Variant
LEPR transcript variant 2	NM_001003680.3:c.-21+4866… NM_001003680.3:c.-21+4866T>C	N/A	Intron Variant
LEPR transcript variant 1	NM_002303.6:c.-21+4866T>C	N/A	Intron Variant
LEPR transcript variant 4	NM_001198687.2:c.	N/A	Genic Upstream Transcript Variant
LEPR transcript variant 5	NM_001198688.1:c.	N/A	Genic Upstream Transcript Variant
LEPR transcript variant 6	NM_001198689.2:c.	N/A	Genic Upstream Transcript Variant

Gene: LEPROT, leptin receptor overlapping transcript (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LEPROT transcript variant 2	NM_001198681.2:c.306+196T… NM_001198681.2:c.306+196T>C	N/A	Intron Variant
LEPROT transcript variant 1	NM_017526.5:c.279+196T>C	N/A	Intron Variant
LEPROT transcript variant 3	NM_001198683.2:c.	N/A	Genic Downstream 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

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	T=	C
GRCh38.p14 chr 1	NC_000001.11:g.65430244=	NC_000001.11:g.65430244T>C
GRCh37.p13 chr 1	NC_000001.10:g.65895927=	NC_000001.10:g.65895927T>C
LEPR RefSeqGene (LRG_283)	NG_015831.2:g.14680=	NG_015831.2:g.14680T>C
LEPR transcript variant 3	NM_001003679.3:c.-21+4866=	NM_001003679.3:c.-21+4866T>C
LEPR transcript variant 2	NM_001003680.3:c.-21+4866=	NM_001003680.3:c.-21+4866T>C
LEPROT transcript variant 2	NM_001198681.1:c.306+196=	NM_001198681.1:c.306+196T>C
LEPROT transcript variant 2	NM_001198681.2:c.306+196=	NM_001198681.2:c.306+196T>C
LEPR transcript variant 1	NM_002303.5:c.-21+4866=	NM_002303.5:c.-21+4866T>C
LEPR transcript variant 1	NM_002303.6:c.-21+4866=	NM_002303.6:c.-21+4866T>C
LEPROT transcript variant 1	NM_017526.4:c.279+196=	NM_017526.4:c.279+196T>C
LEPROT transcript variant 1	NM_017526.5:c.279+196=	NM_017526.5:c.279+196T>C
LEPROT transcript variant X3	XM_005270952.1:c.-21+4866=	XM_005270952.1:c.-21+4866T>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#.

116 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss13035516	Dec 05, 2003 (119)
2	CSHL-HAPMAP	ss16396671	Feb 27, 2004 (120)
3	PERLEGEN	ss23157785	Sep 20, 2004 (123)
4	SI_EXO	ss52083463	Oct 16, 2006 (127)
5	ILLUMINA	ss75140209	Dec 07, 2007 (129)
6	BGI	ss106571886	Feb 06, 2009 (130)
7	1000GENOMES	ss110562353	Jan 25, 2009 (130)
8	ILLUMINA-UK	ss118760048	Feb 14, 2009 (130)
9	KRIBB_YJKIM	ss119592062	Dec 01, 2009 (131)
10	ILLUMINA	ss160987148	Dec 01, 2009 (131)
11	ENSEMBL	ss161268012	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss163463556	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss164443312	Jul 04, 2010 (132)
14	ILLUMINA	ss174842120	Jul 04, 2010 (132)
15	BUSHMAN	ss198554039	Jul 04, 2010 (132)
16	1000GENOMES	ss218425518	Jul 14, 2010 (132)
17	1000GENOMES	ss230564203	Jul 14, 2010 (132)
18	1000GENOMES	ss238252813	Jul 15, 2010 (132)
19	BL	ss253146878	May 09, 2011 (134)
20	ILLUMINA	ss481899630	May 04, 2012 (137)
21	ILLUMINA	ss481932744	May 04, 2012 (137)
22	ILLUMINA	ss482889922	Sep 08, 2015 (146)
23	ILLUMINA	ss485743804	May 04, 2012 (137)
24	ILLUMINA	ss537598405	Sep 08, 2015 (146)
25	TISHKOFF	ss554196118	Apr 25, 2013 (138)
26	SSMP	ss648062727	Apr 25, 2013 (138)
27	ILLUMINA	ss779010232	Aug 21, 2014 (142)
28	ILLUMINA	ss783317681	Aug 21, 2014 (142)
29	ILLUMINA	ss784269657	Aug 21, 2014 (142)
30	ILLUMINA	ss832579223	Apr 01, 2015 (144)
31	ILLUMINA	ss834472694	Aug 21, 2014 (142)
32	EVA-GONL	ss975236586	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1067945814	Aug 21, 2014 (142)
34	1000GENOMES	ss1291182625	Aug 21, 2014 (142)
35	DDI	ss1425833630	Apr 01, 2015 (144)
36	EVA_GENOME_DK	ss1574112988	Apr 01, 2015 (144)
37	EVA_DECODE	ss1584605496	Apr 01, 2015 (144)
38	EVA_UK10K_ALSPAC	ss1600328973	Apr 01, 2015 (144)
39	EVA_UK10K_TWINSUK	ss1643323006	Apr 01, 2015 (144)
40	EVA_MGP	ss1710908142	Apr 01, 2015 (144)
41	EVA_SVP	ss1712339316	Apr 01, 2015 (144)
42	ILLUMINA	ss1751929585	Sep 08, 2015 (146)
43	HAMMER_LAB	ss1794482123	Sep 08, 2015 (146)
44	WEILL_CORNELL_DGM	ss1918444637	Feb 12, 2016 (147)
45	ILLUMINA	ss1945997457	Feb 12, 2016 (147)
46	ILLUMINA	ss1958279752	Feb 12, 2016 (147)
47	JJLAB	ss2019739065	Sep 14, 2016 (149)
48	USC_VALOUEV	ss2147755128	Dec 20, 2016 (150)
49	HUMAN_LONGEVITY	ss2163109893	Dec 20, 2016 (150)
50	SYSTEMSBIOZJU	ss2624383242	Nov 08, 2017 (151)
51	ILLUMINA	ss2632525700	Nov 08, 2017 (151)
52	ILLUMINA	ss2634999175	Nov 08, 2017 (151)
53	GRF	ss2697671600	Nov 08, 2017 (151)
54	ILLUMINA	ss2710673846	Nov 08, 2017 (151)
55	GNOMAD	ss2755965273	Nov 08, 2017 (151)
56	SWEGEN	ss2986932918	Nov 08, 2017 (151)
57	ILLUMINA	ss3021094903	Nov 08, 2017 (151)
58	BIOINF_KMB_FNS_UNIBA	ss3023630984	Nov 08, 2017 (151)
59	CSHL	ss3343487900	Nov 08, 2017 (151)
60	ILLUMINA	ss3625541668	Oct 11, 2018 (152)
61	ILLUMINA	ss3626115265	Oct 11, 2018 (152)
62	ILLUMINA	ss3630561337	Oct 11, 2018 (152)
63	ILLUMINA	ss3632894506	Oct 11, 2018 (152)
64	ILLUMINA	ss3633589207	Oct 11, 2018 (152)
65	ILLUMINA	ss3634328447	Oct 11, 2018 (152)
66	ILLUMINA	ss3635283008	Oct 11, 2018 (152)
67	ILLUMINA	ss3636004522	Oct 11, 2018 (152)
68	ILLUMINA	ss3637033436	Oct 11, 2018 (152)
69	ILLUMINA	ss3637761452	Oct 11, 2018 (152)
70	ILLUMINA	ss3640035808	Oct 11, 2018 (152)
71	ILLUMINA	ss3642773148	Oct 11, 2018 (152)
72	ILLUMINA	ss3644493387	Oct 11, 2018 (152)
73	ILLUMINA	ss3651421918	Oct 11, 2018 (152)
74	EGCUT_WGS	ss3655002678	Jul 12, 2019 (153)
75	EVA_DECODE	ss3686914697	Jul 12, 2019 (153)
76	ILLUMINA	ss3725031112	Jul 12, 2019 (153)
77	ACPOP	ss3727110396	Jul 12, 2019 (153)
78	ILLUMINA	ss3744047524	Jul 12, 2019 (153)
79	ILLUMINA	ss3744629415	Jul 12, 2019 (153)
80	EVA	ss3746294492	Jul 12, 2019 (153)
81	PAGE_CC	ss3770814326	Jul 12, 2019 (153)
82	ILLUMINA	ss3772130750	Jul 12, 2019 (153)
83	PACBIO	ss3783429893	Jul 12, 2019 (153)
84	PACBIO	ss3789084905	Jul 12, 2019 (153)
85	PACBIO	ss3793957672	Jul 12, 2019 (153)
86	KHV_HUMAN_GENOMES	ss3799301611	Jul 12, 2019 (153)
87	EVA	ss3826209661	Apr 25, 2020 (154)
88	EVA	ss3836492188	Apr 25, 2020 (154)
89	EVA	ss3841898671	Apr 25, 2020 (154)
90	SGDP_PRJ	ss3848999115	Apr 25, 2020 (154)
91	KRGDB	ss3894023654	Apr 25, 2020 (154)
92	KOGIC	ss3944654539	Apr 25, 2020 (154)
93	EVA	ss3984458289	Apr 25, 2021 (155)
94	EVA	ss4016914721	Apr 25, 2021 (155)
95	TOPMED	ss4452290490	Apr 25, 2021 (155)
96	TOMMO_GENOMICS	ss5144274629	Apr 25, 2021 (155)
97	EVA	ss5237267029	Apr 25, 2021 (155)
98	1000G_HIGH_COVERAGE	ss5242521726	Oct 12, 2022 (156)
99	EVA	ss5314621570	Oct 12, 2022 (156)
100	EVA	ss5319191187	Oct 12, 2022 (156)
101	HUGCELL_USP	ss5443559768	Oct 12, 2022 (156)
102	EVA	ss5505875471	Oct 12, 2022 (156)
103	1000G_HIGH_COVERAGE	ss5514923747	Oct 12, 2022 (156)
104	SANFORD_IMAGENETICS	ss5624207283	Oct 12, 2022 (156)
105	SANFORD_IMAGENETICS	ss5625673509	Oct 12, 2022 (156)
106	TOMMO_GENOMICS	ss5669139801	Oct 12, 2022 (156)
107	EVA	ss5799486453	Oct 12, 2022 (156)
108	EVA	ss5800082381	Oct 12, 2022 (156)
109	YY_MCH	ss5800659179	Oct 12, 2022 (156)
110	EVA	ss5832057379	Oct 12, 2022 (156)
111	EVA	ss5847159917	Oct 12, 2022 (156)
112	EVA	ss5847541505	Oct 12, 2022 (156)
113	EVA	ss5848937055	Oct 12, 2022 (156)
114	EVA	ss5908552032	Oct 12, 2022 (156)
115	EVA	ss5937511648	Oct 12, 2022 (156)
116	EVA	ss5979276588	Oct 12, 2022 (156)
117	1000Genomes	NC_000001.10 - 65895927	Oct 11, 2018 (152)
118	1000Genomes_30x	NC_000001.11 - 65430244	Oct 12, 2022 (156)
119	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 65895927	Oct 11, 2018 (152)
120	Genetic variation in the Estonian population	NC_000001.10 - 65895927	Oct 11, 2018 (152)
121	The Danish reference pan genome	NC_000001.10 - 65895927	Apr 25, 2020 (154)
122	gnomAD - Genomes	NC_000001.11 - 65430244	Apr 25, 2021 (155)
123	Genome of the Netherlands Release 5	NC_000001.10 - 65895927	Apr 25, 2020 (154)
124	HapMap	NC_000001.11 - 65430244	Apr 25, 2020 (154)
125	KOREAN population from KRGDB	NC_000001.10 - 65895927	Apr 25, 2020 (154)
126	Korean Genome Project	NC_000001.11 - 65430244	Apr 25, 2020 (154)
127	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 65895927	Apr 25, 2020 (154)
128	Northern Sweden	NC_000001.10 - 65895927	Jul 12, 2019 (153)
129	The PAGE Study	NC_000001.11 - 65430244	Jul 12, 2019 (153)
130	CNV burdens in cranial meningiomas	NC_000001.10 - 65895927	Apr 25, 2021 (155)
131	Qatari	NC_000001.10 - 65895927	Apr 25, 2020 (154)
132	SGDP_PRJ	NC_000001.10 - 65895927	Apr 25, 2020 (154)
133	Siberian	NC_000001.10 - 65895927	Apr 25, 2020 (154)
134	8.3KJPN	NC_000001.10 - 65895927	Apr 25, 2021 (155)
135	14KJPN	NC_000001.11 - 65430244	Oct 12, 2022 (156)
136	TopMed	NC_000001.11 - 65430244	Apr 25, 2021 (155)
137	UK 10K study - Twins	NC_000001.10 - 65895927	Oct 11, 2018 (152)
138	A Vietnamese Genetic Variation Database	NC_000001.10 - 65895927	Jul 12, 2019 (153)
139	ALFA	NC_000001.11 - 65430244	Apr 25, 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
ss110562353, ss118760048, ss160987148, ss163463556, ss164443312, ss198554039, ss253146878, ss481899630, ss1584605496, ss1712339316, ss2634999175, ss3642773148	NC_000001.9:65668514:T:C	NC_000001.11:65430243:T:C	(self)
1911360, 1046820, 740926, 1531749, 446309, 1201048, 24894, 395261, 7597, 486567, 1016095, 271482, 2243936, 1046820, 218120, ss218425518, ss230564203, ss238252813, ss481932744, ss482889922, ss485743804, ss537598405, ss554196118, ss648062727, ss779010232, ss783317681, ss784269657, ss832579223, ss834472694, ss975236586, ss1067945814, ss1291182625, ss1425833630, ss1574112988, ss1600328973, ss1643323006, ss1710908142, ss1751929585, ss1794482123, ss1918444637, ss1945997457, ss1958279752, ss2019739065, ss2147755128, ss2624383242, ss2632525700, ss2697671600, ss2710673846, ss2755965273, ss2986932918, ss3021094903, ss3343487900, ss3625541668, ss3626115265, ss3630561337, ss3632894506, ss3633589207, ss3634328447, ss3635283008, ss3636004522, ss3637033436, ss3637761452, ss3640035808, ss3644493387, ss3651421918, ss3655002678, ss3727110396, ss3744047524, ss3744629415, ss3746294492, ss3772130750, ss3783429893, ss3789084905, ss3793957672, ss3826209661, ss3836492188, ss3848999115, ss3894023654, ss3984458289, ss4016914721, ss5144274629, ss5237267029, ss5314621570, ss5319191187, ss5505875471, ss5624207283, ss5625673509, ss5799486453, ss5800082381, ss5832057379, ss5847159917, ss5847541505, ss5937511648, ss5979276588	NC_000001.10:65895926:T:C	NC_000001.11:65430243:T:C	(self)
2449682, 13481261, 85239, 1032540, 35795, 2976905, 15896825, 9391683249, ss2163109893, ss3023630984, ss3686914697, ss3725031112, ss3770814326, ss3799301611, ss3841898671, ss3944654539, ss4452290490, ss5242521726, ss5443559768, ss5514923747, ss5669139801, ss5800659179, ss5848937055, ss5908552032	NC_000001.11:65430243:T:C	NC_000001.11:65430243:T:C	(self)
ss13035516	NT_032977.5:18344837:T:C	NC_000001.11:65430243:T:C	(self)
ss16396671	NT_032977.6:27458996:T:C	NC_000001.11:65430243:T:C	(self)
ss52083463	NT_032977.7:19715319:T:C	NC_000001.11:65430243:T:C	(self)
ss23157785, ss75140209, ss106571886, ss119592062, ss161268012, ss174842120	NT_032977.9:35867844:T:C	NC_000001.11:65430243:T:C	(self)

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

4 citations for rs9436301

PMID	Title	Author	Year	Journal
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
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
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
32891006	Determinants of placental leptin receptor gene expression and association with measures at birth.	Vlahos A et al.	2020	Placenta

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

Genome context:

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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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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs9436301