Name: rs1171278
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.

rs1171278

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:65522463 (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: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.193309 (58692/303618, ALFA)
T=0.271469 (71855/264690, TOPMED)
T=0.255776 (35783/139900, GnomAD) (+ 22 more)
T=0.29791 (23444/78694, PAGE_STUDY)
T=0.01699 (480/28258, 14KJPN)
T=0.01700 (285/16760, 8.3KJPN)
T=0.2680 (1716/6404, 1000G_30x)
T=0.2618 (1311/5008, 1000G)
T=0.1415 (634/4480, Estonian)
T=0.1653 (637/3854, ALSPAC)
T=0.1745 (647/3708, TWINSUK)
T=0.0346 (101/2922, KOREAN)
T=0.2380 (496/2084, HGDP_Stanford)
T=0.2923 (553/1892, HapMap)
T=0.0349 (64/1832, Korea1K)
T=0.168 (168/998, GoNL)
T=0.056 (44/784, PRJEB37584)
T=0.117 (70/600, NorthernSweden)
T=0.394 (85/216, Qatari)
T=0.051 (11/216, Vietnamese)
C=0.355 (71/200, SGDP_PRJ)
T=0.23 (9/40, GENOME_DK)
T=0.11 (2/18, Ancient Sardinia)
C=0.5 (5/10, Siberian)
T=0.5 (5/10, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LEPR : Intron Variant
Publications: 3 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	308654	C=0.805802	G=0.000000, T=0.194198
European	Sub	272136	C=0.817529	G=0.000000, T=0.182471
African	Sub	9186	C=0.5684	G=0.0000, T=0.4316
African Others	Sub	350	C=0.514	G=0.000, T=0.486
African American	Sub	8836	C=0.5705	G=0.0000, T=0.4295
Asian	Sub	3930	C=0.9463	G=0.0000, T=0.0537
East Asian	Sub	3184	C=0.9563	G=0.0000, T=0.0437
Other Asian	Sub	746	C=0.903	G=0.000, T=0.097
Latin American 1	Sub	1134	C=0.7090	G=0.0000, T=0.2910
Latin American 2	Sub	7210	C=0.7259	G=0.0000, T=0.2741
South Asian	Sub	5222	C=0.7156	G=0.0000, T=0.2844
Other	Sub	9836	C=0.7645	G=0.0000, T=0.2355

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
Allele Frequency Aggregator	Total	Global	303618	C=0.806691	G=0.000000, T=0.193309
Allele Frequency Aggregator	European	Sub	269042	C=0.817363	G=0.000000, T=0.182637
Allele Frequency Aggregator	Other	Sub	9036	C=0.7689	G=0.0000, T=0.2311
Allele Frequency Aggregator	African	Sub	8044	C=0.5692	G=0.0000, T=0.4308
Allele Frequency Aggregator	Latin American 2	Sub	7210	C=0.7259	G=0.0000, T=0.2741
Allele Frequency Aggregator	South Asian	Sub	5222	C=0.7156	G=0.0000, T=0.2844
Allele Frequency Aggregator	Asian	Sub	3930	C=0.9463	G=0.0000, T=0.0537
Allele Frequency Aggregator	Latin American 1	Sub	1134	C=0.7090	G=0.0000, T=0.2910
TopMed	Global	Study-wide	264690	C=0.728531	T=0.271469
gnomAD - Genomes	Global	Study-wide	139900	C=0.744224	T=0.255776
gnomAD - Genomes	European	Sub	75822	C=0.83529	T=0.16471
gnomAD - Genomes	African	Sub	41854	C=0.56312	T=0.43688
gnomAD - Genomes	American	Sub	13624	C=0.74604	T=0.25396
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.7280	T=0.2720
gnomAD - Genomes	East Asian	Sub	3134	C=0.9550	T=0.0450
gnomAD - Genomes	Other	Sub	2146	C=0.7647	T=0.2353
The PAGE Study	Global	Study-wide	78694	C=0.70209	T=0.29791
The PAGE Study	AfricanAmerican	Sub	32512	C=0.57197	T=0.42803
The PAGE Study	Mexican	Sub	10808	C=0.72308	T=0.27692
The PAGE Study	Asian	Sub	8318	C=0.9733	T=0.0267
The PAGE Study	PuertoRican	Sub	7916	C=0.7446	T=0.2554
The PAGE Study	NativeHawaiian	Sub	4534	C=0.9034	T=0.0966
The PAGE Study	Cuban	Sub	4230	C=0.7610	T=0.2390
The PAGE Study	Dominican	Sub	3828	C=0.6850	T=0.3150
The PAGE Study	CentralAmerican	Sub	2450	C=0.7351	T=0.2649
The PAGE Study	SouthAmerican	Sub	1982	C=0.7659	T=0.2341
The PAGE Study	NativeAmerican	Sub	1260	C=0.7857	T=0.2143
The PAGE Study	SouthAsian	Sub	856	C=0.704	T=0.296
14KJPN	JAPANESE	Study-wide	28258	C=0.98301	T=0.01699
8.3KJPN	JAPANESE	Study-wide	16760	C=0.98300	T=0.01700
1000Genomes_30x	Global	Study-wide	6404	C=0.7320	T=0.2680
1000Genomes_30x	African	Sub	1786	C=0.5168	T=0.4832
1000Genomes_30x	Europe	Sub	1266	C=0.8310	T=0.1690
1000Genomes_30x	South Asian	Sub	1202	C=0.7354	T=0.2646
1000Genomes_30x	East Asian	Sub	1170	C=0.9410	T=0.0590
1000Genomes_30x	American	Sub	980	C=0.743	T=0.257
1000Genomes	Global	Study-wide	5008	C=0.7382	T=0.2618
1000Genomes	African	Sub	1322	C=0.5174	T=0.4826
1000Genomes	East Asian	Sub	1008	C=0.9425	T=0.0575
1000Genomes	Europe	Sub	1006	C=0.8350	T=0.1650
1000Genomes	South Asian	Sub	978	C=0.732	T=0.268
1000Genomes	American	Sub	694	C=0.731	T=0.269
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8585	T=0.1415
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8347	T=0.1653
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8255	T=0.1745
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9654	T=0.0346
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.7620	T=0.2380
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.957	T=0.043
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.681	T=0.319
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.634	T=0.366
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.834	T=0.166
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.566	T=0.434
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.773	T=0.227
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.88	T=0.12
HapMap	Global	Study-wide	1892	C=0.7077	T=0.2923
HapMap	American	Sub	770	C=0.800	T=0.200
HapMap	African	Sub	692	C=0.493	T=0.507
HapMap	Asian	Sub	254	C=0.965	T=0.035
HapMap	Europe	Sub	176	C=0.778	T=0.222
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9651	T=0.0349
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.832	T=0.168
CNV burdens in cranial meningiomas	Global	Study-wide	784	C=0.944	T=0.056
CNV burdens in cranial meningiomas	CRM	Sub	784	C=0.944	T=0.056
Northern Sweden	ACPOP	Study-wide	600	C=0.883	T=0.117
Qatari	Global	Study-wide	216	C=0.606	T=0.394
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.949	T=0.051
SGDP_PRJ	Global	Study-wide	200	C=0.355	T=0.645
The Danish reference pan genome	Danish	Study-wide	40	C=0.78	T=0.23
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	18	C=0.89	T=0.11
Siberian	Global	Study-wide	10	C=0.5	T=0.5

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.65522463C>G
GRCh38.p14 chr 1	NC_000001.11:g.65522463C>T
GRCh37.p13 chr 1	NC_000001.10:g.65988146C>G
GRCh37.p13 chr 1	NC_000001.10:g.65988146C>T
LEPR RefSeqGene (LRG_283)	NG_015831.2:g.106899C>G
LEPR RefSeqGene (LRG_283)	NG_015831.2:g.106899C>T

Gene: LEPR, leptin receptor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LEPR transcript variant 3	NM_001003679.3:c.-20-4308… NM_001003679.3:c.-20-43083C>G	N/A	Intron Variant
LEPR transcript variant 2	NM_001003680.3:c.-20-4308… NM_001003680.3:c.-20-43083C>G	N/A	Intron Variant
LEPR transcript variant 1	NM_002303.6:c.-20-43083C>G	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

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	C=	G	T
GRCh38.p14 chr 1	NC_000001.11:g.65522463=	NC_000001.11:g.65522463C>G	NC_000001.11:g.65522463C>T
GRCh37.p13 chr 1	NC_000001.10:g.65988146=	NC_000001.10:g.65988146C>G	NC_000001.10:g.65988146C>T
LEPR RefSeqGene (LRG_283)	NG_015831.2:g.106899=	NG_015831.2:g.106899C>G	NG_015831.2:g.106899C>T
LEPR transcript variant 3	NM_001003679.3:c.-20-43083=	NM_001003679.3:c.-20-43083C>G	NM_001003679.3:c.-20-43083C>T
LEPR transcript variant 2	NM_001003680.3:c.-20-43083=	NM_001003680.3:c.-20-43083C>G	NM_001003680.3:c.-20-43083C>T
LEPR transcript variant 1	NM_002303.5:c.-20-43083=	NM_002303.5:c.-20-43083C>G	NM_002303.5:c.-20-43083C>T
LEPR transcript variant 1	NM_002303.6:c.-20-43083=	NM_002303.6:c.-20-43083C>G	NM_002303.6:c.-20-43083C>T
LEPROT transcript variant X3	XM_005270952.1:c.-20-43083=	XM_005270952.1:c.-20-43083C>G	XM_005270952.1:c.-20-43083C>T

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#.

127 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss1602668	Oct 18, 2000 (87)
2	TSC-CSHL	ss2377869	Oct 23, 2000 (88)
3	SC_JCM	ss2646740	Nov 08, 2000 (89)
4	TSC-CSHL	ss5561242	Oct 08, 2002 (108)
5	PERLEGEN	ss23158302	Sep 20, 2004 (123)
6	ABI	ss44026363	Mar 14, 2006 (126)
7	AFFY	ss65979895	Nov 30, 2006 (127)
8	ILLUMINA	ss66635902	Nov 30, 2006 (127)
9	ILLUMINA	ss66947909	Nov 30, 2006 (127)
10	ILLUMINA	ss67110134	Nov 30, 2006 (127)
11	ILLUMINA	ss70397909	May 17, 2007 (127)
12	ILLUMINA	ss70538170	May 25, 2008 (130)
13	ILLUMINA	ss71069828	May 17, 2007 (127)
14	ILLUMINA	ss75493515	Dec 07, 2007 (129)
15	KRIBB_YJKIM	ss83694700	Dec 15, 2007 (130)
16	1000GENOMES	ss110563221	Jan 25, 2009 (130)
17	ILLUMINA	ss121495177	Dec 01, 2009 (131)
18	ILLUMINA	ss153038682	Dec 01, 2009 (131)
19	ILLUMINA	ss159185159	Dec 01, 2009 (131)
20	ILLUMINA	ss159996677	Dec 01, 2009 (131)
21	COMPLETE_GENOMICS	ss163464052	Jul 04, 2010 (132)
22	ILLUMINA	ss169928233	Jul 04, 2010 (132)
23	ILLUMINA	ss171477910	Jul 04, 2010 (132)
24	BUSHMAN	ss198554663	Jul 04, 2010 (132)
25	1000GENOMES	ss218425796	Jul 14, 2010 (132)
26	1000GENOMES	ss230564413	Jul 14, 2010 (132)
27	1000GENOMES	ss238252981	Jul 15, 2010 (132)
28	BL	ss253147433	May 09, 2011 (134)
29	ILLUMINA	ss479572736	May 04, 2012 (137)
30	ILLUMINA	ss479576960	May 04, 2012 (137)
31	ILLUMINA	ss480052345	Sep 08, 2015 (146)
32	ILLUMINA	ss484585122	May 04, 2012 (137)
33	ILLUMINA	ss536715473	Sep 08, 2015 (146)
34	TISHKOFF	ss554196752	Apr 25, 2013 (138)
35	SSMP	ss648063796	Apr 25, 2013 (138)
36	ILLUMINA	ss778763884	Sep 08, 2015 (146)
37	ILLUMINA	ss782739347	Sep 08, 2015 (146)
38	ILLUMINA	ss783706340	Sep 08, 2015 (146)
39	ILLUMINA	ss825367304	Apr 01, 2015 (144)
40	ILLUMINA	ss831991237	Sep 08, 2015 (146)
41	ILLUMINA	ss832697655	Jul 12, 2019 (153)
42	ILLUMINA	ss834223666	Sep 08, 2015 (146)
43	EVA-GONL	ss975237182	Aug 21, 2014 (142)
44	JMKIDD_LAB	ss1067946215	Aug 21, 2014 (142)
45	1000GENOMES	ss1291184869	Aug 21, 2014 (142)
46	DDI	ss1425833882	Apr 01, 2015 (144)
47	EVA_GENOME_DK	ss1574113362	Apr 01, 2015 (144)
48	EVA_DECODE	ss1584606180	Apr 01, 2015 (144)
49	EVA_UK10K_ALSPAC	ss1600330118	Apr 01, 2015 (144)
50	EVA_UK10K_TWINSUK	ss1643324151	Apr 01, 2015 (144)
51	EVA_SVP	ss1712339367	Apr 01, 2015 (144)
52	ILLUMINA	ss1751929615	Sep 08, 2015 (146)
53	HAMMER_LAB	ss1794482867	Sep 08, 2015 (146)
54	WEILL_CORNELL_DGM	ss1918445182	Feb 12, 2016 (147)
55	ILLUMINA	ss1945997465	Feb 12, 2016 (147)
56	ILLUMINA	ss1958279830	Feb 12, 2016 (147)
57	GENOMED	ss1966763753	Jul 19, 2016 (147)
58	JJLAB	ss2019739390	Sep 14, 2016 (149)
59	USC_VALOUEV	ss2147755441	Dec 20, 2016 (150)
60	HUMAN_LONGEVITY	ss2163114620	Dec 20, 2016 (150)
61	ILLUMINA	ss2632525760	Nov 08, 2017 (151)
62	GRF	ss2697671949	Nov 08, 2017 (151)
63	ILLUMINA	ss2710673864	Nov 08, 2017 (151)
64	GNOMAD	ss2755972415	Nov 08, 2017 (151)
65	SWEGEN	ss2986933910	Nov 08, 2017 (151)
66	ILLUMINA	ss3021094990	Nov 08, 2017 (151)
67	BIOINF_KMB_FNS_UNIBA	ss3023631154	Nov 08, 2017 (151)
68	CSHL	ss3343488160	Nov 08, 2017 (151)
69	ILLUMINA	ss3625541679	Oct 11, 2018 (152)
70	ILLUMINA	ss3626115386	Oct 11, 2018 (152)
71	ILLUMINA	ss3630561395	Oct 11, 2018 (152)
72	ILLUMINA	ss3632894531	Oct 11, 2018 (152)
73	ILLUMINA	ss3633589233	Oct 11, 2018 (152)
74	ILLUMINA	ss3634328473	Oct 11, 2018 (152)
75	ILLUMINA	ss3635283034	Oct 11, 2018 (152)
76	ILLUMINA	ss3636004552	Oct 11, 2018 (152)
77	ILLUMINA	ss3637033462	Oct 11, 2018 (152)
78	ILLUMINA	ss3637761484	Oct 11, 2018 (152)
79	ILLUMINA	ss3638899652	Oct 11, 2018 (152)
80	ILLUMINA	ss3639447450	Oct 11, 2018 (152)
81	ILLUMINA	ss3640035834	Oct 11, 2018 (152)
82	ILLUMINA	ss3642773173	Oct 11, 2018 (152)
83	ILLUMINA	ss3644493393	Oct 11, 2018 (152)
84	ILLUMINA	ss3651422006	Oct 11, 2018 (152)
85	EGCUT_WGS	ss3655003640	Jul 12, 2019 (153)
86	EVA_DECODE	ss3686915937	Jul 12, 2019 (153)
87	ILLUMINA	ss3725031187	Jul 12, 2019 (153)
88	ACPOP	ss3727110992	Jul 12, 2019 (153)
89	ILLUMINA	ss3744047530	Jul 12, 2019 (153)
90	ILLUMINA	ss3744629439	Jul 12, 2019 (153)
91	EVA	ss3746295139	Jul 12, 2019 (153)
92	PAGE_CC	ss3770814394	Jul 12, 2019 (153)
93	ILLUMINA	ss3772130774	Jul 12, 2019 (153)
94	PACBIO	ss3783430125	Jul 12, 2019 (153)
95	PACBIO	ss3789085120	Jul 12, 2019 (153)
96	PACBIO	ss3793957889	Jul 12, 2019 (153)
97	KHV_HUMAN_GENOMES	ss3799302263	Jul 12, 2019 (153)
98	EVA	ss3826209952	Apr 25, 2020 (154)
99	EVA	ss3836492337	Apr 25, 2020 (154)
100	EVA	ss3841898822	Apr 25, 2020 (154)
101	HGDP	ss3847336131	Apr 25, 2020 (154)
102	SGDP_PRJ	ss3849000316	Apr 25, 2020 (154)
103	KRGDB	ss3894025141	Apr 25, 2020 (154)
104	KOGIC	ss3944655696	Apr 25, 2020 (154)
105	EVA	ss3984458303	Apr 25, 2021 (155)
106	EVA	ss3984801494	Apr 25, 2021 (155)
107	TOPMED	ss4452311859	Apr 25, 2021 (155)
108	TOMMO_GENOMICS	ss5144277513	Apr 25, 2021 (155)
109	EVA	ss5237267048	Apr 25, 2021 (155)
110	1000G_HIGH_COVERAGE	ss5242523768	Oct 12, 2022 (156)
111	EVA	ss5314621608	Oct 12, 2022 (156)
112	EVA	ss5319195003	Oct 12, 2022 (156)
113	HUGCELL_USP	ss5443561668	Oct 12, 2022 (156)
114	EVA	ss5505875686	Oct 12, 2022 (156)
115	1000G_HIGH_COVERAGE	ss5514926811	Oct 12, 2022 (156)
116	SANFORD_IMAGENETICS	ss5624207340	Oct 12, 2022 (156)
117	SANFORD_IMAGENETICS	ss5625674661	Oct 12, 2022 (156)
118	TOMMO_GENOMICS	ss5669143437	Oct 12, 2022 (156)
119	EVA	ss5799486472	Oct 12, 2022 (156)
120	YY_MCH	ss5800659701	Oct 12, 2022 (156)
121	EVA	ss5832058132	Oct 12, 2022 (156)
122	EVA	ss5847159931	Oct 12, 2022 (156)
123	EVA	ss5847541524	Oct 12, 2022 (156)
124	EVA	ss5848937309	Oct 12, 2022 (156)
125	EVA	ss5908554202	Oct 12, 2022 (156)
126	EVA	ss5937512726	Oct 12, 2022 (156)
127	EVA	ss5979276610	Oct 12, 2022 (156)
128	1000Genomes	NC_000001.10 - 65988146	Oct 11, 2018 (152)
129	1000Genomes_30x	NC_000001.11 - 65522463	Oct 12, 2022 (156)
130	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 65988146	Oct 11, 2018 (152)
131	Genetic variation in the Estonian population	NC_000001.10 - 65988146	Oct 11, 2018 (152)
132	The Danish reference pan genome	NC_000001.10 - 65988146	Apr 25, 2020 (154)
133	gnomAD - Genomes	NC_000001.11 - 65522463	Apr 25, 2021 (155)
134	Genome of the Netherlands Release 5	NC_000001.10 - 65988146	Apr 25, 2020 (154)
135	HGDP-CEPH-db Supplement 1	NC_000001.9 - 65760734	Apr 25, 2020 (154)
136	HapMap	NC_000001.11 - 65522463	Apr 25, 2020 (154)
137	KOREAN population from KRGDB	NC_000001.10 - 65988146	Apr 25, 2020 (154)
138	Korean Genome Project	NC_000001.11 - 65522463	Apr 25, 2020 (154)
139	Northern Sweden	NC_000001.10 - 65988146	Jul 12, 2019 (153)
140	The PAGE Study	NC_000001.11 - 65522463	Jul 12, 2019 (153)
141	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 65988146	Apr 25, 2021 (155)
142	CNV burdens in cranial meningiomas	NC_000001.10 - 65988146	Apr 25, 2021 (155)
143	Qatari	NC_000001.10 - 65988146	Apr 25, 2020 (154)
144	SGDP_PRJ	NC_000001.10 - 65988146	Apr 25, 2020 (154)
145	Siberian	NC_000001.10 - 65988146	Apr 25, 2020 (154)
146	8.3KJPN	NC_000001.10 - 65988146	Apr 25, 2021 (155)
147	14KJPN	NC_000001.11 - 65522463	Oct 12, 2022 (156)
148	TopMed	NC_000001.11 - 65522463	Apr 25, 2021 (155)
149	UK 10K study - Twins	NC_000001.10 - 65988146	Oct 11, 2018 (152)
150	A Vietnamese Genetic Variation Database	NC_000001.10 - 65988146	Jul 12, 2019 (153)
151	ALFA	NC_000001.11 - 65522463	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).

Associated ID	History Updated (Build)
rs17127709	Oct 07, 2004 (123)
rs59884445	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
447257563	NC_000001.11:65522462:C:G	NC_000001.11:65522462:C:G	(self)
ss3638899652, ss3639447450	NC_000001.8:65700166:C:T	NC_000001.11:65522462:C:T	(self)
14023, ss110563221, ss163464052, ss198554663, ss253147433, ss479572736, ss825367304, ss1584606180, ss1712339367, ss3642773173, ss3847336131	NC_000001.9:65760733:C:T	NC_000001.11:65522462:C:T	(self)
1913692, 1048132, 741888, 1531972, 446897, 1202535, 395857, 27421, 7611, 487112, 1017296, 271795, 2246820, 1048132, 218436, ss218425796, ss230564413, ss238252981, ss479576960, ss480052345, ss484585122, ss536715473, ss554196752, ss648063796, ss778763884, ss782739347, ss783706340, ss831991237, ss832697655, ss834223666, ss975237182, ss1067946215, ss1291184869, ss1425833882, ss1574113362, ss1600330118, ss1643324151, ss1751929615, ss1794482867, ss1918445182, ss1945997465, ss1958279830, ss1966763753, ss2019739390, ss2147755441, ss2632525760, ss2697671949, ss2710673864, ss2755972415, ss2986933910, ss3021094990, ss3343488160, ss3625541679, ss3626115386, ss3630561395, ss3632894531, ss3633589233, ss3634328473, ss3635283034, ss3636004552, ss3637033462, ss3637761484, ss3640035834, ss3644493393, ss3651422006, ss3655003640, ss3727110992, ss3744047530, ss3744629439, ss3746295139, ss3772130774, ss3783430125, ss3789085120, ss3793957889, ss3826209952, ss3836492337, ss3849000316, ss3894025141, ss3984458303, ss3984801494, ss5144277513, ss5237267048, ss5314621608, ss5319195003, ss5505875686, ss5624207340, ss5625674661, ss5799486472, ss5832058132, ss5847159931, ss5847541524, ss5937512726, ss5979276610	NC_000001.10:65988145:C:T	NC_000001.11:65522462:C:T	(self)
2452746, 13499269, 85367, 1033697, 35863, 2980541, 15918194, 447257563, ss2163114620, ss3023631154, ss3686915937, ss3725031187, ss3770814394, ss3799302263, ss3841898822, ss3944655696, ss4452311859, ss5242523768, ss5443561668, ss5514926811, ss5669143437, ss5800659701, ss5848937309, ss5908554202	NC_000001.11:65522462:C:T	NC_000001.11:65522462:C:T	(self)
ss1602668, ss2377869, ss2646740, ss5561242, ss23158302, ss44026363, ss65979895, ss66635902, ss66947909, ss67110134, ss70397909, ss70538170, ss71069828, ss75493515, ss83694700, ss121495177, ss153038682, ss159185159, ss159996677, ss169928233, ss171477910	NT_032977.9:35960063:C:T	NC_000001.11:65522462:C:T	(self)

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

3 citations for rs1171278

PMID	Title	Author	Year	Journal
17903295	Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.	Lunetta KL et al.	2007	BMC medical genetics
20167575	Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.	Sun Q et al.	2010	Human molecular genetics
22479352	The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy.	Urbanek M et al.	2012	PloS one

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1171278