Name: rs264
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.

rs264

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:19955669 (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: G>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.143103 (37878/264690, TOPMED)
A=0.148202 (34273/231258, ALFA)
A=0.139555 (19529/139938, GnomAD) (+ 23 more)
A=0.14218 (11189/78698, PAGE_STUDY)
A=0.21275 (6012/28258, 14KJPN)
A=0.21563 (3614/16760, 8.3KJPN)
A=0.1633 (1046/6404, 1000G_30x)
A=0.1601 (802/5008, 1000G)
A=0.1295 (580/4480, Estonian)
A=0.1450 (559/3854, ALSPAC)
A=0.1448 (537/3708, TWINSUK)
A=0.2061 (604/2930, KOREAN)
A=0.1660 (346/2084, HGDP_Stanford)
A=0.1390 (263/1892, HapMap)
A=0.1927 (353/1832, Korea1K)
A=0.1477 (164/1110, Daghestan)
A=0.148 (148/998, GoNL)
A=0.186 (147/790, PRJEB37584)
A=0.122 (73/600, NorthernSweden)
A=0.125 (27/216, Qatari)
A=0.181 (39/216, Vietnamese)
G=0.409 (63/154, SGDP_PRJ)
A=0.24 (10/42, Ancient Sardinia)
A=0.15 (6/40, GENOME_DK)
G=0.50 (8/16, Siberian)
A=0.50 (8/16, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: LPL : Intron Variant
Publications: 18 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	231474	G=0.851789	A=0.148211	0.726708	0.02313	0.250162	6
European	Sub	198508	G=0.854756	A=0.145244	0.731638	0.022125	0.246237	4
African	Sub	8146	G=0.8696	A=0.1304	0.756936	0.017677	0.225387	0
African Others	Sub	308	G=0.851	A=0.149	0.727273	0.025974	0.246753	0
African American	Sub	7838	G=0.8704	A=0.1296	0.758102	0.017351	0.224547	0
Asian	Sub	6368	G=0.7918	A=0.2082	0.629083	0.04554	0.325377	0
East Asian	Sub	4534	G=0.7962	A=0.2038	0.637406	0.044993	0.3176	1
Other Asian	Sub	1834	G=0.7808	A=0.2192	0.608506	0.046892	0.344602	0
Latin American 1	Sub	550	G=0.869	A=0.131	0.752727	0.014545	0.232727	0
Latin American 2	Sub	1572	G=0.8302	A=0.1698	0.695929	0.035623	0.268448	1
South Asian	Sub	5140	G=0.8204	A=0.1796	0.671595	0.030739	0.297665	0
Other	Sub	11190	G=0.83691	A=0.16309	0.701162	0.027346	0.271492	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	G=0.856897	A=0.143103
Allele Frequency Aggregator	Total	Global	231258	G=0.851798	A=0.148202
Allele Frequency Aggregator	European	Sub	198328	G=0.854781	A=0.145219
Allele Frequency Aggregator	Other	Sub	11168	G=0.83677	A=0.16323
Allele Frequency Aggregator	African	Sub	8132	G=0.8695	A=0.1305
Allele Frequency Aggregator	Asian	Sub	6368	G=0.7918	A=0.2082
Allele Frequency Aggregator	South Asian	Sub	5140	G=0.8204	A=0.1796
Allele Frequency Aggregator	Latin American 2	Sub	1572	G=0.8302	A=0.1698
Allele Frequency Aggregator	Latin American 1	Sub	550	G=0.869	A=0.131
gnomAD - Genomes	Global	Study-wide	139938	G=0.860445	A=0.139555
gnomAD - Genomes	European	Sub	75816	G=0.86255	A=0.13745
gnomAD - Genomes	African	Sub	41916	G=0.87201	A=0.12799
gnomAD - Genomes	American	Sub	13624	G=0.83852	A=0.16148
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.8128	A=0.1872
gnomAD - Genomes	East Asian	Sub	3120	G=0.7994	A=0.2006
gnomAD - Genomes	Other	Sub	2140	G=0.8621	A=0.1379
The PAGE Study	Global	Study-wide	78698	G=0.85782	A=0.14218
The PAGE Study	AfricanAmerican	Sub	32514	G=0.87122	A=0.12878
The PAGE Study	Mexican	Sub	10810	G=0.84921	A=0.15079
The PAGE Study	Asian	Sub	8318	G=0.8012	A=0.1988
The PAGE Study	PuertoRican	Sub	7918	G=0.8704	A=0.1296
The PAGE Study	NativeHawaiian	Sub	4534	G=0.8736	A=0.1264
The PAGE Study	Cuban	Sub	4230	G=0.8496	A=0.1504
The PAGE Study	Dominican	Sub	3828	G=0.8777	A=0.1223
The PAGE Study	CentralAmerican	Sub	2450	G=0.8408	A=0.1592
The PAGE Study	SouthAmerican	Sub	1980	G=0.8525	A=0.1475
The PAGE Study	NativeAmerican	Sub	1260	G=0.8540	A=0.1460
The PAGE Study	SouthAsian	Sub	856	G=0.826	A=0.174
14KJPN	JAPANESE	Study-wide	28258	G=0.78725	A=0.21275
8.3KJPN	JAPANESE	Study-wide	16760	G=0.78437	A=0.21563
1000Genomes_30x	Global	Study-wide	6404	G=0.8367	A=0.1633
1000Genomes_30x	African	Sub	1786	G=0.8869	A=0.1131
1000Genomes_30x	Europe	Sub	1266	G=0.8381	A=0.1619
1000Genomes_30x	South Asian	Sub	1202	G=0.8220	A=0.1780
1000Genomes_30x	East Asian	Sub	1170	G=0.7658	A=0.2342
1000Genomes_30x	American	Sub	980	G=0.846	A=0.154
1000Genomes	Global	Study-wide	5008	G=0.8399	A=0.1601
1000Genomes	African	Sub	1322	G=0.8933	A=0.1067
1000Genomes	East Asian	Sub	1008	G=0.7669	A=0.2331
1000Genomes	Europe	Sub	1006	G=0.8509	A=0.1491
1000Genomes	South Asian	Sub	978	G=0.821	A=0.179
1000Genomes	American	Sub	694	G=0.854	A=0.146
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8705	A=0.1295
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8550	A=0.1450
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8552	A=0.1448
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.7939	A=0.2061
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.8340	A=0.1660
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.764	A=0.236
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.867	A=0.133
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.880	A=0.120
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.769	A=0.231
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.955	A=0.045
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.875	A=0.125
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.64	A=0.36
HapMap	Global	Study-wide	1892	G=0.8610	A=0.1390
HapMap	American	Sub	770	G=0.840	A=0.160
HapMap	African	Sub	692	G=0.921	A=0.079
HapMap	Asian	Sub	254	G=0.783	A=0.217
HapMap	Europe	Sub	176	G=0.830	A=0.170
Korean Genome Project	KOREAN	Study-wide	1832	G=0.8073	A=0.1927
Genome-wide autozygosity in Daghestan	Global	Study-wide	1110	G=0.8523	A=0.1477
Genome-wide autozygosity in Daghestan	Daghestan	Sub	620	G=0.897	A=0.103
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	G=0.875	A=0.125
Genome-wide autozygosity in Daghestan	Central Asia	Sub	118	G=0.814	A=0.186
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.824	A=0.176
Genome-wide autozygosity in Daghestan	South Asian	Sub	84	G=0.60	A=0.40
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.81	A=0.19
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.852	A=0.148
CNV burdens in cranial meningiomas	Global	Study-wide	790	G=0.814	A=0.186
CNV burdens in cranial meningiomas	CRM	Sub	790	G=0.814	A=0.186
Northern Sweden	ACPOP	Study-wide	600	G=0.878	A=0.122
Qatari	Global	Study-wide	216	G=0.875	A=0.125
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.819	A=0.181
SGDP_PRJ	Global	Study-wide	154	G=0.409	A=0.591
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	42	G=0.76	A=0.24
The Danish reference pan genome	Danish	Study-wide	40	G=0.85	A=0.15
Siberian	Global	Study-wide	16	G=0.50	A=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.19955669G>A
GRCh37.p13 chr 8	NC_000008.10:g.19813180G>A
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.58953G>A

Gene: LPL, lipoprotein lipase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LPL transcript	NM_000237.3:c.776-172G>A	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: A (allele ID: 1271165 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001695988.1	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	G=	A
GRCh38.p14 chr 8	NC_000008.11:g.19955669=	NC_000008.11:g.19955669G>A
GRCh37.p13 chr 8	NC_000008.10:g.19813180=	NC_000008.10:g.19813180G>A
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.58953=	NG_008855.2:g.58953G>A
LPL transcript	NM_000237.2:c.776-172=	NM_000237.2:c.776-172G>A
LPL transcript	NM_000237.3:c.776-172=	NM_000237.3:c.776-172G>A

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#.

112 SubSNP, 25 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	DEBNICK	ss264	Sep 19, 2000 (36)
2	YUSUKE	ss2990799	Jun 15, 2001 (96)
3	ILLUMINA	ss66614179	Nov 29, 2006 (127)
4	ILLUMINA	ss67265121	Nov 29, 2006 (127)
5	ILLUMINA	ss67664844	Nov 29, 2006 (127)
6	ILLUMINA	ss70743476	May 27, 2008 (130)
7	ILLUMINA	ss71314805	May 16, 2007 (127)
8	ILLUMINA	ss75484145	Dec 06, 2007 (129)
9	ILLUMINA	ss79141843	Dec 16, 2007 (130)
10	KRIBB_YJKIM	ss83344075	Dec 16, 2007 (130)
11	BGI	ss104512508	Dec 01, 2009 (131)
12	ILLUMINA	ss122075245	Dec 01, 2009 (131)
13	ILLUMINA	ss154225302	Dec 01, 2009 (131)
14	ILLUMINA	ss159401817	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss162224017	Jul 04, 2010 (132)
16	ILLUMINA	ss171328098	Jul 04, 2010 (132)
17	ILLUMINA	ss173415671	Jul 04, 2010 (132)
18	1000GENOMES	ss223585631	Jul 14, 2010 (132)
19	1000GENOMES	ss234352469	Jul 15, 2010 (132)
20	1000GENOMES	ss241227293	Jul 15, 2010 (132)
21	ILLUMINA	ss244291359	Jul 04, 2010 (132)
22	BL	ss254171418	May 09, 2011 (134)
23	GMI	ss279724014	May 04, 2012 (137)
24	ILLUMINA	ss410924722	Sep 17, 2011 (135)
25	EXOME_CHIP	ss491410890	May 04, 2012 (137)
26	ILLUMINA	ss537111606	Sep 08, 2015 (146)
27	TISHKOFF	ss560600109	Apr 25, 2013 (138)
28	SSMP	ss655035550	Apr 25, 2013 (138)
29	ILLUMINA	ss780683747	Sep 08, 2015 (146)
30	ILLUMINA	ss783357161	Sep 08, 2015 (146)
31	ILLUMINA	ss825472361	Jul 19, 2016 (147)
32	ILLUMINA	ss832913530	Jul 13, 2019 (153)
33	EVA-GONL	ss985272614	Aug 21, 2014 (142)
34	JMKIDD_LAB	ss1075340002	Aug 21, 2014 (142)
35	1000GENOMES	ss1328915133	Aug 21, 2014 (142)
36	HAMMER_LAB	ss1397520197	Sep 08, 2015 (146)
37	DDI	ss1431441576	Apr 01, 2015 (144)
38	EVA_GENOME_DK	ss1582593751	Apr 01, 2015 (144)
39	EVA_DECODE	ss1594862269	Apr 01, 2015 (144)
40	EVA_UK10K_ALSPAC	ss1620133695	Apr 01, 2015 (144)
41	EVA_UK10K_TWINSUK	ss1663127728	Apr 01, 2015 (144)
42	EVA_SVP	ss1713021088	Apr 01, 2015 (144)
43	ILLUMINA	ss1752723236	Sep 08, 2015 (146)
44	ILLUMINA	ss1917826321	Feb 12, 2016 (147)
45	WEILL_CORNELL_DGM	ss1928562366	Feb 12, 2016 (147)
46	ILLUMINA	ss1946231537	Feb 12, 2016 (147)
47	ILLUMINA	ss1959093868	Feb 12, 2016 (147)
48	GENOMED	ss1970929933	Jul 19, 2016 (147)
49	JJLAB	ss2024980547	Sep 14, 2016 (149)
50	USC_VALOUEV	ss2153202012	Dec 20, 2016 (150)
51	HUMAN_LONGEVITY	ss2301287923	Dec 20, 2016 (150)
52	SYSTEMSBIOZJU	ss2626975144	Nov 08, 2017 (151)
53	ILLUMINA	ss2634720443	Nov 08, 2017 (151)
54	ILLUMINA	ss2634720444	Nov 08, 2017 (151)
55	ILLUMINA	ss2635180592	Nov 08, 2017 (151)
56	GRF	ss2708962519	Nov 08, 2017 (151)
57	GNOMAD	ss2864092823	Nov 08, 2017 (151)
58	AFFY	ss2985433047	Nov 08, 2017 (151)
59	AFFY	ss2986076172	Nov 08, 2017 (151)
60	SWEGEN	ss3002804429	Nov 08, 2017 (151)
61	ILLUMINA	ss3022826062	Nov 08, 2017 (151)
62	BIOINF_KMB_FNS_UNIBA	ss3026281099	Nov 08, 2017 (151)
63	CSHL	ss3348082023	Nov 08, 2017 (151)
64	ILLUMINA	ss3630013635	Oct 12, 2018 (152)
65	ILLUMINA	ss3635162174	Oct 12, 2018 (152)
66	ILLUMINA	ss3638748366	Oct 12, 2018 (152)
67	ILLUMINA	ss3639376746	Oct 12, 2018 (152)
68	ILLUMINA	ss3639717192	Oct 12, 2018 (152)
69	ILLUMINA	ss3640869464	Oct 12, 2018 (152)
70	ILLUMINA	ss3643680164	Oct 12, 2018 (152)
71	ILLUMINA	ss3644964711	Oct 12, 2018 (152)
72	ILLUMINA	ss3653367016	Oct 12, 2018 (152)
73	ILLUMINA	ss3654194861	Oct 12, 2018 (152)
74	EGCUT_WGS	ss3670484463	Jul 13, 2019 (153)
75	EVA_DECODE	ss3721555437	Jul 13, 2019 (153)
76	ILLUMINA	ss3726520340	Jul 13, 2019 (153)
77	ACPOP	ss3735467031	Jul 13, 2019 (153)
78	ILLUMINA	ss3744577750	Jul 13, 2019 (153)
79	ILLUMINA	ss3745461957	Jul 13, 2019 (153)
80	EVA	ss3767717749	Jul 13, 2019 (153)
81	PAGE_CC	ss3771428675	Jul 13, 2019 (153)
82	ILLUMINA	ss3772954550	Jul 13, 2019 (153)
83	PACBIO	ss3786087361	Jul 13, 2019 (153)
84	PACBIO	ss3791353770	Jul 13, 2019 (153)
85	PACBIO	ss3796234937	Jul 13, 2019 (153)
86	KHV_HUMAN_GENOMES	ss3810881216	Jul 13, 2019 (153)
87	EVA	ss3831054898	Apr 26, 2020 (154)
88	HGDP	ss3847906862	Apr 26, 2020 (154)
89	SGDP_PRJ	ss3869436709	Apr 26, 2020 (154)
90	KRGDB	ss3916862535	Apr 26, 2020 (154)
91	KOGIC	ss3963402166	Apr 26, 2020 (154)
92	EVA	ss3984602256	Apr 27, 2021 (155)
93	EVA	ss3985347109	Apr 27, 2021 (155)
94	EVA	ss4017379937	Apr 27, 2021 (155)
95	TOPMED	ss4778092942	Apr 27, 2021 (155)
96	TOMMO_GENOMICS	ss5187654409	Apr 27, 2021 (155)
97	EVA	ss5237438114	Apr 27, 2021 (155)
98	1000G_HIGH_COVERAGE	ss5276330166	Oct 14, 2022 (156)
99	EVA	ss5315316834	Oct 14, 2022 (156)
100	EVA	ss5379642178	Oct 14, 2022 (156)
101	HUGCELL_USP	ss5472980781	Oct 14, 2022 (156)
102	1000G_HIGH_COVERAGE	ss5566254028	Oct 14, 2022 (156)
103	SANFORD_IMAGENETICS	ss5624687988	Oct 14, 2022 (156)
104	SANFORD_IMAGENETICS	ss5644923841	Oct 14, 2022 (156)
105	TOMMO_GENOMICS	ss5729271008	Oct 14, 2022 (156)
106	YY_MCH	ss5809516733	Oct 14, 2022 (156)
107	EVA	ss5830224463	Oct 14, 2022 (156)
108	EVA	ss5847335288	Oct 14, 2022 (156)
109	EVA	ss5848169549	Oct 14, 2022 (156)
110	EVA	ss5888021505	Oct 14, 2022 (156)
111	EVA	ss5974104333	Oct 14, 2022 (156)
112	EVA	ss5979856487	Oct 14, 2022 (156)
113	1000Genomes	NC_000008.10 - 19813180	Oct 12, 2018 (152)
114	1000Genomes_30x	NC_000008.11 - 19955669	Oct 14, 2022 (156)
115	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 19813180	Oct 12, 2018 (152)
116	Genome-wide autozygosity in Daghestan	NC_000008.9 - 19857460	Apr 26, 2020 (154)
117	Genetic variation in the Estonian population	NC_000008.10 - 19813180	Oct 12, 2018 (152)
118	The Danish reference pan genome	NC_000008.10 - 19813180	Apr 26, 2020 (154)
119	gnomAD - Genomes	NC_000008.11 - 19955669	Apr 27, 2021 (155)
120	Genome of the Netherlands Release 5	NC_000008.10 - 19813180	Apr 26, 2020 (154)
121	HGDP-CEPH-db Supplement 1	NC_000008.9 - 19857460	Apr 26, 2020 (154)
122	HapMap	NC_000008.11 - 19955669	Apr 26, 2020 (154)
123	KOREAN population from KRGDB	NC_000008.10 - 19813180	Apr 26, 2020 (154)
124	Korean Genome Project	NC_000008.11 - 19955669	Apr 26, 2020 (154)
125	Northern Sweden	NC_000008.10 - 19813180	Jul 13, 2019 (153)
126	The PAGE Study	NC_000008.11 - 19955669	Jul 13, 2019 (153)
127	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000008.10 - 19813180	Apr 27, 2021 (155)
128	CNV burdens in cranial meningiomas	NC_000008.10 - 19813180	Apr 27, 2021 (155)
129	Qatari	NC_000008.10 - 19813180	Apr 26, 2020 (154)
130	SGDP_PRJ	NC_000008.10 - 19813180	Apr 26, 2020 (154)
131	Siberian	NC_000008.10 - 19813180	Apr 26, 2020 (154)
132	8.3KJPN	NC_000008.10 - 19813180	Apr 27, 2021 (155)
133	14KJPN	NC_000008.11 - 19955669	Oct 14, 2022 (156)
134	TopMed	NC_000008.11 - 19955669	Apr 27, 2021 (155)
135	UK 10K study - Twins	NC_000008.10 - 19813180	Oct 12, 2018 (152)
136	A Vietnamese Genetic Variation Database	NC_000008.10 - 19813180	Jul 13, 2019 (153)
137	ALFA	NC_000008.11 - 19955669	Apr 27, 2021 (155)
138	ClinVar	RCV001695988.1	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)
rs61603267	May 27, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
494091, 584754, ss162224017, ss254171418, ss279724014, ss825472361, ss1397520197, ss1594862269, ss1713021088, ss2635180592, ss3639376746, ss3639717192, ss3643680164, ss3847906862	NC_000008.9:19857459:G:A	NC_000008.11:19955668:G:A	(self)
41009876, 22797088, 16222711, 8758689, 10186930, 24039929, 8751896, 573036, 151692, 10604296, 21453689, 5718366, 45623716, 22797088, 5083465, ss223585631, ss234352469, ss241227293, ss491410890, ss537111606, ss560600109, ss655035550, ss780683747, ss783357161, ss832913530, ss985272614, ss1075340002, ss1328915133, ss1431441576, ss1582593751, ss1620133695, ss1663127728, ss1752723236, ss1917826321, ss1928562366, ss1946231537, ss1959093868, ss1970929933, ss2024980547, ss2153202012, ss2626975144, ss2634720443, ss2634720444, ss2708962519, ss2864092823, ss2985433047, ss2986076172, ss3002804429, ss3022826062, ss3348082023, ss3630013635, ss3635162174, ss3638748366, ss3640869464, ss3644964711, ss3653367016, ss3654194861, ss3670484463, ss3735467031, ss3744577750, ss3745461957, ss3767717749, ss3772954550, ss3786087361, ss3791353770, ss3796234937, ss3831054898, ss3869436709, ss3916862535, ss3984602256, ss3985347109, ss4017379937, ss5187654409, ss5237438114, ss5315316834, ss5379642178, ss5624687988, ss5644923841, ss5830224463, ss5847335288, ss5848169549, ss5974104333, ss5979856487	NC_000008.10:19813179:G:A	NC_000008.11:19955668:G:A	(self)
RCV001695988.1, 53779963, 289194808, 3580977, 19780167, 650144, 63108112, 615470502, 7286147422, ss2301287923, ss3026281099, ss3721555437, ss3726520340, ss3771428675, ss3810881216, ss3963402166, ss4778092942, ss5276330166, ss5472980781, ss5566254028, ss5729271008, ss5809516733, ss5888021505	NC_000008.11:19955668:G:A	NC_000008.11:19955668:G:A	(self)
ss264, ss2990799, ss66614179, ss67265121, ss67664844, ss70743476, ss71314805, ss75484145, ss79141843, ss83344075, ss104512508, ss122075245, ss154225302, ss159401817, ss171328098, ss173415671, ss244291359, ss410924722	NT_167187.1:7671325:G:A	NC_000008.11:19955668:G:A	(self)

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

18 citations for rs264

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
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
21303902	Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol.	Edmondson AC et al.	2011	Circulation. Cardiovascular genetics
24219970	Common genetic variants do not associate with CAD in familial hypercholesterolemia.	van Iperen EP et al.	2014	European journal of human genetics
24932356	Genetics of coronary artery disease: an update.	Roberts R et al.	2014	Methodist DeBakey cardiovascular journal
24979386	Rs964184 (APOA5-A4-C3-A1) is related to elevated plasma triglyceride levels, but not to an increased risk for vascular events in patients with clinically manifest vascular disease.	van de Woestijne AP et al.	2014	PloS one
25542012	Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study.	Franceschini N et al.	2014	PloS one
25738804	Association of six genetic variants with myocardial infarction.	Matsuoka R et al.	2015	International journal of molecular medicine
26847647	Experimental Biology for the Identification of Causal Pathways in Atherosclerosis.	Guo Y et al.	2016	Cardiovascular drugs and therapy
26892960	From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease.	Nurnberg ST et al.	2016	Circulation research
26950853	Genome-Wide Association Study for Incident Myocardial Infarction and Coronary Heart Disease in Prospective Cohort Studies: The CHARGE Consortium.	Dehghan A et al.	2016	PloS one
26958643	Detailed analysis of association between common single nucleotide polymorphisms and subclinical atherosclerosis: The Multi-ethnic Study of Atherosclerosis.	Vargas JD et al.	2016	Data in brief
27189168	The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.	Kessler T et al.	2016	EMBO molecular medicine
28209224	Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.	Webb TR et al.	2017	Journal of the American College of Cardiology
28686695	Coronary artery disease-associated genetic variants and biomarkers of inflammation.	Christiansen MK et al.	2017	PloS one
29695241	Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes.	Charmet R et al.	2018	Cardiovascular diabetology
31845553	Precision Medicine and Cardiovascular Health: Insights from Mendelian Randomization Analyses.	Spiller W et al.	2020	Korean circulation journal
32360841	Genetics of type 2 diabetes and coronary artery disease and their associations with twelve cardiometabolic traits in the United Arab Emirates population.	Osman W et al.	2020	Gene

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
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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

rs264