Name: rs301
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.

rs301

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:19959423 (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=0.254252 (67298/264690, TOPMED)
C=0.241614 (58705/242970, GnomAD_exome)
C=0.242680 (46860/193094, ALFA) (+ 22 more)
C=0.256351 (35882/139972, GnomAD)
C=0.256579 (28139/109670, ExAC)
C=0.24821 (19534/78700, PAGE_STUDY)
C=0.19326 (5461/28258, 14KJPN)
C=0.19547 (3276/16760, 8.3KJPN)
C=0.34107 (4436/13006, GO-ESP)
C=0.2553 (1635/6404, 1000G_30x)
C=0.3820 (1913/5008, 1000G)
C=0.2496 (1118/4480, Estonian)
C=0.2051 (601/2930, KOREAN)
C=0.2415 (457/1892, HapMap)
C=0.2610 (296/1134, Daghestan)
C=0.173 (136/784, PRJEB37584)
C=0.210 (126/600, NorthernSweden)
C=0.172 (101/587, Vietnamese)
C=0.260 (139/534, MGP)
C=0.241 (52/216, Qatari)
T=0.417 (90/216, SGDP_PRJ)
C=0.26 (22/86, Ancient Sardinia)
C=0.25 (10/40, GENOME_DK)
T=0.50 (11/22, Siberian)
C=0.50 (11/22, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: LPL : Intron Variant
Publications: 11 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	193286	T=0.757266	C=0.242734	0.574579	0.060046	0.365376	2
European	Sub	163812	T=0.757844	C=0.242156	0.575452	0.059764	0.364784	2
African	Sub	8336	T=0.6978	C=0.3022	0.486564	0.090931	0.422505	0
African Others	Sub	292	T=0.647	C=0.353	0.417808	0.123288	0.458904	0
African American	Sub	8044	T=0.6997	C=0.3003	0.48906	0.089756	0.421183	0
Asian	Sub	6346	T=0.8024	C=0.1976	0.64387	0.03908	0.31705	0
East Asian	Sub	4498	T=0.8032	C=0.1968	0.645176	0.038684	0.316141	0
Other Asian	Sub	1848	T=0.8003	C=0.1997	0.640693	0.040043	0.319264	0
Latin American 1	Sub	464	T=0.754	C=0.246	0.560345	0.051724	0.387931	0
Latin American 2	Sub	1010	T=0.7733	C=0.2267	0.6	0.053465	0.346535	0
South Asian	Sub	280	T=0.775	C=0.225	0.592857	0.042857	0.364286	0
Other	Sub	13038	T=0.76453	C=0.23547	0.584292	0.055223	0.360485	0

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=0.745748	C=0.254252
gnomAD - Exomes	Global	Study-wide	242970	T=0.758386	C=0.241614
gnomAD - Exomes	European	Sub	129914	T=0.757239	C=0.242761
gnomAD - Exomes	Asian	Sub	48338	T=0.77608	C=0.22392
gnomAD - Exomes	American	Sub	33586	T=0.80379	C=0.19621
gnomAD - Exomes	African	Sub	15320	T=0.66508	C=0.33492
gnomAD - Exomes	Ashkenazi Jewish	Sub	9910	T=0.6744	C=0.3256
gnomAD - Exomes	Other	Sub	5902	T=0.7636	C=0.2364
Allele Frequency Aggregator	Total	Global	193094	T=0.757320	C=0.242680
Allele Frequency Aggregator	European	Sub	163652	T=0.757913	C=0.242087
Allele Frequency Aggregator	Other	Sub	13020	T=0.76436	C=0.23564
Allele Frequency Aggregator	African	Sub	8322	T=0.6979	C=0.3021
Allele Frequency Aggregator	Asian	Sub	6346	T=0.8024	C=0.1976
Allele Frequency Aggregator	Latin American 2	Sub	1010	T=0.7733	C=0.2267
Allele Frequency Aggregator	Latin American 1	Sub	464	T=0.754	C=0.246
Allele Frequency Aggregator	South Asian	Sub	280	T=0.775	C=0.225
gnomAD - Genomes	Global	Study-wide	139972	T=0.743649	C=0.256351
gnomAD - Genomes	European	Sub	75860	T=0.76268	C=0.23732
gnomAD - Genomes	African	Sub	41908	T=0.69851	C=0.30149
gnomAD - Genomes	American	Sub	13614	T=0.77384	C=0.22616
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.6908	C=0.3092
gnomAD - Genomes	East Asian	Sub	3120	T=0.7994	C=0.2006
gnomAD - Genomes	Other	Sub	2148	T=0.7616	C=0.2384
ExAC	Global	Study-wide	109670	T=0.743421	C=0.256579
ExAC	Europe	Sub	65364	T=0.73770	C=0.26230
ExAC	Asian	Sub	24204	T=0.77029	C=0.22971
ExAC	American	Sub	10364	T=0.79477	C=0.20523
ExAC	African	Sub	8968	T=0.6510	C=0.3490
ExAC	Other	Sub	770	T=0.770	C=0.230
The PAGE Study	Global	Study-wide	78700	T=0.75179	C=0.24821
The PAGE Study	AfricanAmerican	Sub	32514	T=0.69708	C=0.30292
The PAGE Study	Mexican	Sub	10810	T=0.79389	C=0.20611
The PAGE Study	Asian	Sub	8318	T=0.8165	C=0.1835
The PAGE Study	PuertoRican	Sub	7918	T=0.7824	C=0.2176
The PAGE Study	NativeHawaiian	Sub	4534	T=0.8363	C=0.1637
The PAGE Study	Cuban	Sub	4230	T=0.7466	C=0.2534
The PAGE Study	Dominican	Sub	3828	T=0.7518	C=0.2482
The PAGE Study	CentralAmerican	Sub	2450	T=0.7845	C=0.2155
The PAGE Study	SouthAmerican	Sub	1982	T=0.7785	C=0.2215
The PAGE Study	NativeAmerican	Sub	1260	T=0.7714	C=0.2286
The PAGE Study	SouthAsian	Sub	856	T=0.779	C=0.221
14KJPN	JAPANESE	Study-wide	28258	T=0.80674	C=0.19326
8.3KJPN	JAPANESE	Study-wide	16760	T=0.80453	C=0.19547
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.65893	C=0.34107
GO Exome Sequencing Project	European American	Sub	8600	T=0.6815	C=0.3185
GO Exome Sequencing Project	African American	Sub	4406	T=0.6148	C=0.3852
1000Genomes_30x	Global	Study-wide	6404	T=0.7447	C=0.2553
1000Genomes_30x	African	Sub	1786	T=0.6932	C=0.3068
1000Genomes_30x	Europe	Sub	1266	T=0.7235	C=0.2765
1000Genomes_30x	South Asian	Sub	1202	T=0.7945	C=0.2055
1000Genomes_30x	East Asian	Sub	1170	T=0.7632	C=0.2368
1000Genomes_30x	American	Sub	980	T=0.783	C=0.217
1000Genomes	Global	Study-wide	5008	T=0.6180	C=0.3820
1000Genomes	African	Sub	1322	T=0.6316	C=0.3684
1000Genomes	East Asian	Sub	1008	T=0.5089	C=0.4911
1000Genomes	Europe	Sub	1006	T=0.5408	C=0.4592
1000Genomes	South Asian	Sub	978	T=0.777	C=0.223
1000Genomes	American	Sub	694	T=0.638	C=0.362
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7504	C=0.2496
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.7949	C=0.2051
HapMap	Global	Study-wide	1892	T=0.7585	C=0.2415
HapMap	American	Sub	770	T=0.783	C=0.217
HapMap	African	Sub	692	T=0.723	C=0.277
HapMap	Asian	Sub	254	T=0.787	C=0.213
HapMap	Europe	Sub	176	T=0.750	C=0.250
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	T=0.7390	C=0.2610
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	T=0.720	C=0.280
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.785	C=0.215
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.787	C=0.213
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.759	C=0.241
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.69	C=0.31
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.78	C=0.22
CNV burdens in cranial meningiomas	Global	Study-wide	784	T=0.827	C=0.173
CNV burdens in cranial meningiomas	CRM	Sub	784	T=0.827	C=0.173
Northern Sweden	ACPOP	Study-wide	600	T=0.790	C=0.210
A Vietnamese Genetic Variation Database	Global	Study-wide	587	T=0.828	C=0.172
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.740	C=0.260
Qatari	Global	Study-wide	216	T=0.759	C=0.241
SGDP_PRJ	Global	Study-wide	216	T=0.417	C=0.583
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	86	T=0.74	C=0.26
The Danish reference pan genome	Danish	Study-wide	40	T=0.75	C=0.25
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 8	NC_000008.11:g.19959423T>C
GRCh37.p13 chr 8	NC_000008.10:g.19816934T>C
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.62707T>C

Gene: LPL, lipoprotein lipase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LPL transcript	NM_000237.3:c.1139+43T>C	N/A	Intron 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.

Allele: C (allele ID: 1267056 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001688083.1	not provided	Benign

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 8	NC_000008.11:g.19959423=	NC_000008.11:g.19959423T>C
GRCh37.p13 chr 8	NC_000008.10:g.19816934=	NC_000008.10:g.19816934T>C
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.62707=	NG_008855.2:g.62707T>C
LPL transcript	NM_000237.2:c.1139+43=	NM_000237.2:c.1139+43T>C
LPL transcript	NM_000237.3:c.1139+43=	NM_000237.3:c.1139+43T>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#.

124 SubSNP, 24 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	DEBNICK	ss301	Sep 19, 2000 (36)
2	TSC-CSHL	ss1475535	Oct 05, 2000 (92)
3	TSC-CSHL	ss3315178	Sep 28, 2001 (100)
4	YUSUKE	ss5010639	Aug 28, 2002 (108)
5	TSC-CSHL	ss5158053	Oct 08, 2002 (108)
6	WI_SSAHASNP	ss11955072	Jul 11, 2003 (116)
7	IMCJ-GDT	ss16343022	Feb 27, 2004 (120)
8	ABI	ss44885926	Mar 13, 2006 (126)
9	SNP500CANCER	ss48295481	Mar 13, 2006 (126)
10	ILLUMINA	ss65765796	Oct 13, 2006 (127)
11	PERLEGEN	ss69043152	May 16, 2007 (127)
12	SI_EXO	ss71647123	May 16, 2007 (127)
13	ILLUMINA	ss74899432	Dec 06, 2007 (129)
14	KRIBB_YJKIM	ss80743674	Dec 14, 2007 (129)
15	BGI	ss104512518	Dec 01, 2009 (131)
16	ILLUMINA-UK	ss115864238	Feb 14, 2009 (130)
17	KRIBB_YJKIM	ss119336842	Dec 01, 2009 (131)
18	ILLUMINA	ss173551501	Jul 04, 2010 (132)
19	BUSHMAN	ss198888154	Jul 04, 2010 (132)
20	ILLUMINA	ss244293235	Jul 04, 2010 (132)
21	BL	ss254171468	May 09, 2011 (134)
22	GMI	ss279724028	May 04, 2012 (137)
23	ILLUMINA	ss410878554	Sep 17, 2011 (135)
24	1000GENOMES	ss488883643	May 04, 2012 (137)
25	EXOME_CHIP	ss491410895	May 04, 2012 (137)
26	CLINSEQ_SNP	ss491921990	May 04, 2012 (137)
27	ILLUMINA	ss533121476	Sep 08, 2015 (146)
28	TISHKOFF	ss560600137	Apr 25, 2013 (138)
29	SSMP	ss655035573	Apr 25, 2013 (138)
30	NHLBI-ESP	ss712828541	Apr 25, 2013 (138)
31	ILLUMINA	ss780684142	Sep 08, 2015 (146)
32	ILLUMINA	ss783357573	Sep 08, 2015 (146)
33	JMKIDD_LAB	ss1067495947	Aug 21, 2014 (142)
34	1000GENOMES	ss1328915269	Aug 21, 2014 (142)
35	HAMMER_LAB	ss1397520205	Sep 08, 2015 (146)
36	DDI	ss1431441587	Apr 01, 2015 (144)
37	EVA_GENOME_DK	ss1582593772	Apr 01, 2015 (144)
38	EVA_EXAC	ss1689111657	Apr 01, 2015 (144)
39	EVA_MGP	ss1711194711	Apr 01, 2015 (144)
40	EVA_SVP	ss1713021096	Apr 01, 2015 (144)
41	ILLUMINA	ss1752723242	Sep 08, 2015 (146)
42	HAMMER_LAB	ss1805432800	Sep 08, 2015 (146)
43	ILLUMINA	ss1917826325	Feb 12, 2016 (147)
44	WEILL_CORNELL_DGM	ss1928562411	Feb 12, 2016 (147)
45	ILLUMINA	ss1946231544	Feb 12, 2016 (147)
46	ILLUMINA	ss1959093896	Feb 12, 2016 (147)
47	ILLUMINA	ss1959093897	Feb 12, 2016 (147)
48	GENOMED	ss1970929944	Jul 19, 2016 (147)
49	JJLAB	ss2024980572	Sep 14, 2016 (149)
50	ILLUMINA	ss2095209244	Dec 20, 2016 (150)
51	USC_VALOUEV	ss2153202035	Dec 20, 2016 (150)
52	HUMAN_LONGEVITY	ss2301288212	Dec 20, 2016 (150)
53	SYSTEMSBIOZJU	ss2626975161	Nov 08, 2017 (151)
54	ILLUMINA	ss2634720457	Nov 08, 2017 (151)
55	ILLUMINA	ss2634720458	Nov 08, 2017 (151)
56	ILLUMINA	ss2635180596	Nov 08, 2017 (151)
57	GRF	ss2708962540	Nov 08, 2017 (151)
58	GNOMAD	ss2737022479	Nov 08, 2017 (151)
59	GNOMAD	ss2748007760	Nov 08, 2017 (151)
60	GNOMAD	ss2864093171	Nov 08, 2017 (151)
61	AFFY	ss2985433057	Nov 08, 2017 (151)
62	AFFY	ss2986076201	Nov 08, 2017 (151)
63	SWEGEN	ss3002804477	Nov 08, 2017 (151)
64	ILLUMINA	ss3022826092	Nov 08, 2017 (151)
65	ILLUMINA	ss3022826093	Nov 08, 2017 (151)
66	BIOINF_KMB_FNS_UNIBA	ss3026281116	Nov 08, 2017 (151)
67	CSHL	ss3348082042	Nov 08, 2017 (151)
68	ILLUMINA	ss3630013654	Oct 12, 2018 (152)
69	ILLUMINA	ss3630013655	Oct 12, 2018 (152)
70	ILLUMINA	ss3635162180	Oct 12, 2018 (152)
71	ILLUMINA	ss3638748374	Oct 12, 2018 (152)
72	ILLUMINA	ss3640869470	Oct 12, 2018 (152)
73	ILLUMINA	ss3643680172	Oct 12, 2018 (152)
74	ILLUMINA	ss3644964718	Oct 12, 2018 (152)
75	OMUKHERJEE_ADBS	ss3646373023	Oct 12, 2018 (152)
76	ILLUMINA	ss3653367046	Oct 12, 2018 (152)
77	ILLUMINA	ss3653367047	Oct 12, 2018 (152)
78	ILLUMINA	ss3653367048	Oct 12, 2018 (152)
79	ILLUMINA	ss3654194871	Oct 12, 2018 (152)
80	EGCUT_WGS	ss3670484518	Jul 13, 2019 (153)
81	EVA_DECODE	ss3721555504	Jul 13, 2019 (153)
82	ILLUMINA	ss3726520367	Jul 13, 2019 (153)
83	ACPOP	ss3735467066	Jul 13, 2019 (153)
84	ILLUMINA	ss3744577755	Jul 13, 2019 (153)
85	ILLUMINA	ss3745461963	Jul 13, 2019 (153)
86	EVA	ss3767717799	Jul 13, 2019 (153)
87	PAGE_CC	ss3771428696	Jul 13, 2019 (153)
88	ILLUMINA	ss3772954556	Jul 13, 2019 (153)
89	PACBIO	ss3786087376	Jul 13, 2019 (153)
90	PACBIO	ss3791353783	Jul 13, 2019 (153)
91	PACBIO	ss3796234950	Jul 13, 2019 (153)
92	KHV_HUMAN_GENOMES	ss3810881273	Jul 13, 2019 (153)
93	EVA	ss3824351423	Apr 26, 2020 (154)
94	EVA	ss3831054925	Apr 26, 2020 (154)
95	SGDP_PRJ	ss3869436769	Apr 26, 2020 (154)
96	KRGDB	ss3916862599	Apr 26, 2020 (154)
97	FSA-LAB	ss3984393701	Apr 27, 2021 (155)
98	FSA-LAB	ss3984393702	Apr 27, 2021 (155)
99	EVA	ss3984602261	Apr 27, 2021 (155)
100	EVA	ss3985347117	Apr 27, 2021 (155)
101	EVA	ss3986415487	Apr 27, 2021 (155)
102	EVA	ss4017379945	Apr 27, 2021 (155)
103	TOPMED	ss4778094025	Apr 27, 2021 (155)
104	TOMMO_GENOMICS	ss5187654547	Apr 27, 2021 (155)
105	EVA	ss5237438118	Apr 27, 2021 (155)
106	1000G_HIGH_COVERAGE	ss5276330279	Oct 14, 2022 (156)
107	EVA	ss5315316840	Oct 14, 2022 (156)
108	EVA	ss5379642396	Oct 14, 2022 (156)
109	HUGCELL_USP	ss5472980891	Oct 14, 2022 (156)
110	1000G_HIGH_COVERAGE	ss5566254199	Oct 14, 2022 (156)
111	EVA	ss5623943195	Oct 14, 2022 (156)
112	EVA	ss5624176083	Oct 14, 2022 (156)
113	SANFORD_IMAGENETICS	ss5624687995	Oct 14, 2022 (156)
114	SANFORD_IMAGENETICS	ss5644923907	Oct 14, 2022 (156)
115	TOMMO_GENOMICS	ss5729271172	Oct 14, 2022 (156)
116	EVA	ss5800059210	Oct 14, 2022 (156)
117	EVA	ss5800145667	Oct 14, 2022 (156)
118	YY_MCH	ss5809516760	Oct 14, 2022 (156)
119	EVA	ss5830224505	Oct 14, 2022 (156)
120	EVA	ss5848169558	Oct 14, 2022 (156)
121	EVA	ss5848702267	Oct 14, 2022 (156)
122	EVA	ss5856287102	Oct 14, 2022 (156)
123	EVA	ss5974104409	Oct 14, 2022 (156)
124	EVA	ss5979856495	Oct 14, 2022 (156)
125	1000Genomes	NC_000008.10 - 19816934	Oct 12, 2018 (152)
126	1000Genomes_30x	NC_000008.11 - 19959423	Oct 14, 2022 (156)
127	Genome-wide autozygosity in Daghestan	NC_000008.9 - 19861214	Apr 26, 2020 (154)
128	Genetic variation in the Estonian population	NC_000008.10 - 19816934	Oct 12, 2018 (152)
129	ExAC	NC_000008.10 - 19816934	Oct 12, 2018 (152)
130	The Danish reference pan genome	NC_000008.10 - 19816934	Apr 26, 2020 (154)
131	gnomAD - Genomes	NC_000008.11 - 19959423	Apr 27, 2021 (155)
132	gnomAD - Exomes	NC_000008.10 - 19816934	Jul 13, 2019 (153)
133	GO Exome Sequencing Project	NC_000008.10 - 19816934	Oct 12, 2018 (152)
134	HapMap	NC_000008.11 - 19959423	Apr 26, 2020 (154)
135	KOREAN population from KRGDB	NC_000008.10 - 19816934	Apr 26, 2020 (154)
136	Medical Genome Project healthy controls from Spanish population	NC_000008.10 - 19816934	Apr 26, 2020 (154)
137	Northern Sweden	NC_000008.10 - 19816934	Jul 13, 2019 (153)
138	The PAGE Study	NC_000008.11 - 19959423	Jul 13, 2019 (153)
139	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000008.10 - 19816934	Apr 27, 2021 (155)
140	CNV burdens in cranial meningiomas	NC_000008.10 - 19816934	Apr 27, 2021 (155)
141	Qatari	NC_000008.10 - 19816934	Apr 26, 2020 (154)
142	SGDP_PRJ	NC_000008.10 - 19816934	Apr 26, 2020 (154)
143	Siberian	NC_000008.10 - 19816934	Apr 26, 2020 (154)
144	8.3KJPN	NC_000008.10 - 19816934	Apr 27, 2021 (155)
145	14KJPN	NC_000008.11 - 19959423	Oct 14, 2022 (156)
146	TopMed	NC_000008.11 - 19959423	Apr 27, 2021 (155)
147	A Vietnamese Genetic Variation Database	NC_000008.10 - 19816934	Jul 13, 2019 (153)
148	ALFA	NC_000008.11 - 19959423	Apr 27, 2021 (155)
149	ClinVar	RCV001688083.1	Oct 14, 2022 (156)

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)
rs1012463	Jan 18, 2001 (92)
rs3824161	Oct 08, 2002 (108)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
494099, ss115864238, ss198888154, ss254171468, ss279724028, ss491921990, ss1397520205, ss1713021096, ss2635180596, ss3643680172	NC_000008.9:19861213:T:C	NC_000008.11:19959422:T:C	(self)
41010016, 16222766, 9205254, 8758710, 6190879, 809274, 24039993, 310471, 8751931, 573044, 151697, 10604341, 21453749, 5718389, 45623854, 5083491, ss488883643, ss491410895, ss533121476, ss560600137, ss655035573, ss712828541, ss780684142, ss783357573, ss1067495947, ss1328915269, ss1431441587, ss1582593772, ss1689111657, ss1711194711, ss1752723242, ss1805432800, ss1917826325, ss1928562411, ss1946231544, ss1959093896, ss1959093897, ss1970929944, ss2024980572, ss2095209244, ss2153202035, ss2626975161, ss2634720457, ss2634720458, ss2708962540, ss2737022479, ss2748007760, ss2864093171, ss2985433057, ss2986076201, ss3002804477, ss3022826092, ss3022826093, ss3348082042, ss3630013654, ss3630013655, ss3635162180, ss3638748374, ss3640869470, ss3644964718, ss3646373023, ss3653367046, ss3653367047, ss3653367048, ss3654194871, ss3670484518, ss3735467066, ss3744577755, ss3745461963, ss3767717799, ss3772954556, ss3786087376, ss3791353783, ss3796234950, ss3824351423, ss3831054925, ss3869436769, ss3916862599, ss3984393701, ss3984393702, ss3984602261, ss3985347117, ss3986415487, ss4017379945, ss5187654547, ss5237438118, ss5315316840, ss5379642396, ss5623943195, ss5624176083, ss5624687995, ss5644923907, ss5800059210, ss5800145667, ss5830224505, ss5848169558, ss5848702267, ss5974104409, ss5979856495	NC_000008.10:19816933:T:C	NC_000008.11:19959422:T:C	(self)
RCV001688083.1, 53780134, 289195682, 3580999, 650165, 63108276, 615471585, 10679298572, ss2301288212, ss3026281116, ss3721555504, ss3726520367, ss3771428696, ss3810881273, ss4778094025, ss5276330279, ss5472980891, ss5566254199, ss5729271172, ss5809516760, ss5856287102	NC_000008.11:19959422:T:C	NC_000008.11:19959422:T:C	(self)
ss11955072	NT_030737.7:3538157:T:C	NC_000008.11:19959422:T:C	(self)
ss301, ss1475535, ss3315178, ss5010639, ss5158053, ss16343022, ss44885926, ss48295481, ss65765796, ss69043152, ss71647123, ss74899432, ss80743674, ss104512518, ss119336842, ss173551501, ss244293235, ss410878554	NT_167187.1:7675079:T:C	NC_000008.11:19959422:T:C	(self)

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

11 citations for rs301

PMID	Title	Author	Year	Journal
19148283	Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.	Deo RC et al.	2009	PLoS genetics
19913121	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	Talmud PJ et al.	2009	American journal of human genetics
20650961	Application of statistical and functional methodologies for the investigation of genetic determinants of coronary heart disease biomarkers: lipoprotein lipase genotype and plasma triglycerides as an exemplar.	Smith AJ et al.	2010	Human molecular genetics
21386085	A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.	Kraja AT et al.	2011	Diabetes
21860704	Implications of discoveries from genome-wide association studies in current cardiovascular practice.	Jeemon P et al.	2011	World journal of cardiology
21880794	Type 1 hyperlipoproteinemia and recurrent acute pancreatitis due to lipoprotein lipase antibody in a young girl with Sjogren's syndrome.	Ashraf AP et al.	2011	The Journal of clinical endocrinology and metabolism
22022282	A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains.	Avery CL et al.	2011	PLoS genetics
25626708	Resequencing of LPL in African Blacks and associations with lipoprotein-lipid levels.	Pirim D et al.	2015	European journal of human genetics
25951190	Networks in Coronary Heart Disease Genetics As a Step towards Systems Epidemiology.	Drenos F et al.	2015	PloS one
26079786	Correction: Lipoprotein Lipase SNPs rs13702 and rs301 Correlate with Clinical Outcome in Chronic Lymphocytic Leukemia Patients.		2015	PloS one
27312935	Genetics of Insulin Resistance and the Metabolic Syndrome.	Brown AE et al.	2016	Current cardiology reports

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

rs301