Name: rs253
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.

rs253

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:19953906 (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: C=0.473724 (125390/264690, TOPMED)
T=0.464268 (97499/210006, ALFA)
C=0.467565 (65461/140004, GnomAD) (+ 21 more)
T=0.28565 (8072/28258, 14KJPN)
T=0.28628 (4798/16760, 8.3KJPN)
C=0.4808 (3079/6404, 1000G_30x)
C=0.4878 (2443/5008, 1000G)
T=0.4980 (2231/4480, Estonian)
T=0.4455 (1717/3854, ALSPAC)
T=0.4552 (1688/3708, TWINSUK)
T=0.3218 (943/2930, KOREAN)
T=0.4491 (936/2084, HGDP_Stanford)
C=0.4724 (891/1886, HapMap)
T=0.3150 (577/1832, Korea1K)
T=0.4056 (460/1134, Daghestan)
T=0.424 (423/998, GoNL)
T=0.403 (252/626, Chileans)
T=0.442 (265/600, NorthernSweden)
C=0.348 (124/356, SGDP_PRJ)
T=0.421 (91/216, Qatari)
T=0.341 (73/214, Vietnamese)
C=0.41 (28/68, Ancient Sardinia)
T=0.38 (15/40, GENOME_DK)
C=0.36 (10/28, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: LPL : Intron Variant
Publications: 5 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	210006	C=0.535732	T=0.464268	0.290887	0.219422	0.489691	14
European	Sub	176368	C=0.546641	T=0.453359	0.299442	0.20616	0.494398	0
African	Sub	10388	C=0.28090	T=0.71910	0.075472	0.51367	0.410859	1
African Others	Sub	360	C=0.222	T=0.778	0.033333	0.588889	0.377778	1
African American	Sub	10028	C=0.28301	T=0.71699	0.076984	0.510969	0.412046	1
Asian	Sub	752	C=0.634	T=0.366	0.388298	0.119681	0.492021	1
East Asian	Sub	574	C=0.634	T=0.366	0.38676	0.118467	0.494774	1
Other Asian	Sub	178	C=0.635	T=0.365	0.393258	0.123596	0.483146	0
Latin American 1	Sub	988	C=0.507	T=0.493	0.253036	0.238866	0.508097	0
Latin American 2	Sub	9048	C=0.5819	T=0.4181	0.343501	0.179708	0.47679	1
South Asian	Sub	5056	C=0.5941	T=0.4059	0.352453	0.164161	0.483386	0
Other	Sub	7406	C=0.5309	T=0.4691	0.278153	0.216311	0.505536	1

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	C=0.473724	T=0.526276
Allele Frequency Aggregator	Total	Global	210006	C=0.535732	T=0.464268
Allele Frequency Aggregator	European	Sub	176368	C=0.546641	T=0.453359
Allele Frequency Aggregator	African	Sub	10388	C=0.28090	T=0.71910
Allele Frequency Aggregator	Latin American 2	Sub	9048	C=0.5819	T=0.4181
Allele Frequency Aggregator	Other	Sub	7406	C=0.5309	T=0.4691
Allele Frequency Aggregator	South Asian	Sub	5056	C=0.5941	T=0.4059
Allele Frequency Aggregator	Latin American 1	Sub	988	C=0.507	T=0.493
Allele Frequency Aggregator	Asian	Sub	752	C=0.634	T=0.366
gnomAD - Genomes	Global	Study-wide	140004	C=0.467565	T=0.532435
gnomAD - Genomes	European	Sub	75820	C=0.54497	T=0.45503
gnomAD - Genomes	African	Sub	41966	C=0.27813	T=0.72187
gnomAD - Genomes	American	Sub	13634	C=0.54364	T=0.45636
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.5894	T=0.4106
gnomAD - Genomes	East Asian	Sub	3116	C=0.6473	T=0.3527
gnomAD - Genomes	Other	Sub	2146	C=0.5042	T=0.4958
14KJPN	JAPANESE	Study-wide	28258	C=0.71435	T=0.28565
8.3KJPN	JAPANESE	Study-wide	16760	C=0.71372	T=0.28628
1000Genomes_30x	Global	Study-wide	6404	C=0.4808	T=0.5192
1000Genomes_30x	African	Sub	1786	C=0.2284	T=0.7716
1000Genomes_30x	Europe	Sub	1266	C=0.5166	T=0.4834
1000Genomes_30x	South Asian	Sub	1202	C=0.5799	T=0.4201
1000Genomes_30x	East Asian	Sub	1170	C=0.6359	T=0.3641
1000Genomes_30x	American	Sub	980	C=0.588	T=0.412
1000Genomes	Global	Study-wide	5008	C=0.4878	T=0.5122
1000Genomes	African	Sub	1322	C=0.2284	T=0.7716
1000Genomes	East Asian	Sub	1008	C=0.6458	T=0.3542
1000Genomes	Europe	Sub	1006	C=0.5239	T=0.4761
1000Genomes	South Asian	Sub	978	C=0.574	T=0.426
1000Genomes	American	Sub	694	C=0.579	T=0.421
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5020	T=0.4980
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5545	T=0.4455
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5448	T=0.4552
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.6782	G=0.0000, T=0.3218
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.5509	T=0.4491
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.623	T=0.377
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.609	T=0.391
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.577	T=0.423
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.478	T=0.522
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.236	T=0.764
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.671	T=0.329
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.64	T=0.36
HapMap	Global	Study-wide	1886	C=0.4724	T=0.5276
HapMap	American	Sub	768	C=0.543	T=0.457
HapMap	African	Sub	688	C=0.310	T=0.690
HapMap	Asian	Sub	254	C=0.689	T=0.311
HapMap	Europe	Sub	176	C=0.489	T=0.511
Korean Genome Project	KOREAN	Study-wide	1832	C=0.6850	T=0.3150
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	C=0.5944	T=0.4056
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.608	T=0.392
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.535	T=0.465
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.607	T=0.393
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.556	T=0.444
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	C=0.59	T=0.41
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.67	T=0.33
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.576	T=0.424
Chileans	Chilean	Study-wide	626	C=0.597	T=0.403
Northern Sweden	ACPOP	Study-wide	600	C=0.558	T=0.442
SGDP_PRJ	Global	Study-wide	356	C=0.348	T=0.652
Qatari	Global	Study-wide	216	C=0.579	T=0.421
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.659	T=0.341
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	68	C=0.41	T=0.59
The Danish reference pan genome	Danish	Study-wide	40	C=0.62	T=0.38
Siberian	Global	Study-wide	28	C=0.36	T=0.64

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.19953906C>G
GRCh38.p14 chr 8	NC_000008.11:g.19953906C>T
GRCh37.p13 chr 8	NC_000008.10:g.19811417C>G
GRCh37.p13 chr 8	NC_000008.10:g.19811417C>T
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.57190C>G
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.57190C>T

Gene: LPL, lipoprotein lipase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LPL transcript	NM_000237.3:c.542-214C>G	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: T (allele ID: 1239112 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001654680.2	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	C=	G	T
GRCh38.p14 chr 8	NC_000008.11:g.19953906=	NC_000008.11:g.19953906C>G	NC_000008.11:g.19953906C>T
GRCh37.p13 chr 8	NC_000008.10:g.19811417=	NC_000008.10:g.19811417C>G	NC_000008.10:g.19811417C>T
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.57190=	NG_008855.2:g.57190C>G	NG_008855.2:g.57190C>T
LPL transcript	NM_000237.2:c.542-214=	NM_000237.2:c.542-214C>G	NM_000237.2:c.542-214C>T
LPL transcript	NM_000237.3:c.542-214=	NM_000237.3:c.542-214C>G	NM_000237.3:c.542-214C>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#.

131 SubSNP, 24 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	DEBNICK	ss253	Sep 19, 2000 (36)
2	SC_JCM	ss4040274	Sep 28, 2001 (100)
3	WI_SSAHASNP	ss6804714	Feb 20, 2003 (111)
4	CSHL-HAPMAP	ss20330568	Feb 27, 2004 (120)
5	SSAHASNP	ss22696037	Apr 05, 2004 (121)
6	PERLEGEN	ss24421397	Sep 20, 2004 (123)
7	ABI	ss44856993	Mar 13, 2006 (126)
8	ILLUMINA	ss67259588	Dec 01, 2006 (127)
9	ILLUMINA	ss67658456	Dec 01, 2006 (127)
10	ILLUMINA	ss68206902	Dec 12, 2006 (127)
11	PERLEGEN	ss69043146	May 17, 2007 (127)
12	ILLUMINA	ss70737933	May 23, 2008 (130)
13	ILLUMINA	ss71308404	May 17, 2007 (127)
14	ILLUMINA	ss75489716	Dec 07, 2007 (129)
15	AFFY	ss76763838	Dec 07, 2007 (129)
16	HGSV	ss78699628	Dec 07, 2007 (129)
17	KRIBB_YJKIM	ss83344070	Dec 14, 2007 (130)
18	HUMANGENOME_JCVI	ss98056375	Feb 04, 2009 (130)
19	BGI	ss104512502	Dec 01, 2009 (131)
20	1000GENOMES	ss112894495	Jan 25, 2009 (130)
21	1000GENOMES	ss115099780	Jan 25, 2009 (130)
22	ILLUMINA-UK	ss115864224	Feb 14, 2009 (130)
23	ENSEMBL	ss134460727	Dec 01, 2009 (131)
24	ILLUMINA	ss153918359	Dec 01, 2009 (131)
25	ILLUMINA	ss159395942	Dec 01, 2009 (131)
26	ILLUMINA	ss160556633	Dec 01, 2009 (131)
27	COMPLETE_GENOMICS	ss162223981	Jul 04, 2010 (132)
28	COMPLETE_GENOMICS	ss164131584	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss166350911	Jul 04, 2010 (132)
30	ILLUMINA	ss173382803	Jul 04, 2010 (132)
31	BUSHMAN	ss198888074	Jul 04, 2010 (132)
32	1000GENOMES	ss223585619	Jul 14, 2010 (132)
33	1000GENOMES	ss234352463	Jul 15, 2010 (132)
34	1000GENOMES	ss241227287	Jul 15, 2010 (132)
35	ILLUMINA	ss244290988	Jul 04, 2010 (132)
36	BL	ss254171388	May 09, 2011 (134)
37	GMI	ss279724007	May 04, 2012 (137)
38	GMI	ss285807988	Apr 25, 2013 (138)
39	PJP	ss294234326	May 09, 2011 (134)
40	ILLUMINA	ss410878525	Sep 17, 2011 (135)
41	ILLUMINA	ss480596887	May 04, 2012 (137)
42	ILLUMINA	ss480611126	May 04, 2012 (137)
43	ILLUMINA	ss481440750	Sep 08, 2015 (146)
44	ILLUMINA	ss485093636	May 04, 2012 (137)
45	ILLUMINA	ss537101326	Sep 08, 2015 (146)
46	TISHKOFF	ss560600099	Apr 25, 2013 (138)
47	SSMP	ss655035536	Apr 25, 2013 (138)
48	ILLUMINA	ss778499186	Sep 08, 2015 (146)
49	ILLUMINA	ss782993112	Sep 08, 2015 (146)
50	ILLUMINA	ss783953842	Sep 08, 2015 (146)
51	ILLUMINA	ss832249961	Sep 08, 2015 (146)
52	ILLUMINA	ss832907672	Jul 13, 2019 (153)
53	ILLUMINA	ss833955268	Sep 08, 2015 (146)
54	EVA-GONL	ss985272601	Aug 21, 2014 (142)
55	JMKIDD_LAB	ss1075339989	Aug 21, 2014 (142)
56	1000GENOMES	ss1328915061	Aug 21, 2014 (142)
57	HAMMER_LAB	ss1397520194	Sep 08, 2015 (146)
58	DDI	ss1431441570	Apr 01, 2015 (144)
59	EVA_GENOME_DK	ss1582593744	Apr 01, 2015 (144)
60	EVA_DECODE	ss1594862259	Apr 01, 2015 (144)
61	EVA_UK10K_ALSPAC	ss1620133668	Apr 01, 2015 (144)
62	EVA_UK10K_TWINSUK	ss1663127701	Apr 01, 2015 (144)
63	EVA_SVP	ss1713021084	Apr 01, 2015 (144)
64	ILLUMINA	ss1752723233	Sep 08, 2015 (146)
65	HAMMER_LAB	ss1805432771	Sep 08, 2015 (146)
66	WEILL_CORNELL_DGM	ss1928562351	Feb 12, 2016 (147)
67	GENOMED	ss1970929926	Jul 19, 2016 (147)
68	JJLAB	ss2024980537	Sep 14, 2016 (149)
69	USC_VALOUEV	ss2153202002	Dec 20, 2016 (150)
70	HUMAN_LONGEVITY	ss2301287794	Dec 20, 2016 (150)
71	SYSTEMSBIOZJU	ss2626975137	Nov 08, 2017 (151)
72	ILLUMINA	ss2634720438	Nov 08, 2017 (151)
73	GRF	ss2708962511	Nov 08, 2017 (151)
74	GNOMAD	ss2864092678	Nov 08, 2017 (151)
75	AFFY	ss2986076164	Nov 08, 2017 (151)
76	SWEGEN	ss3002804413	Nov 08, 2017 (151)
77	BIOINF_KMB_FNS_UNIBA	ss3026281093	Nov 08, 2017 (151)
78	CSHL	ss3348082016	Nov 08, 2017 (151)
79	ILLUMINA	ss3630013628	Oct 12, 2018 (152)
80	ILLUMINA	ss3632620989	Oct 12, 2018 (152)
81	ILLUMINA	ss3633493722	Oct 12, 2018 (152)
82	ILLUMINA	ss3634220168	Oct 12, 2018 (152)
83	ILLUMINA	ss3635162171	Oct 12, 2018 (152)
84	ILLUMINA	ss3635899138	Oct 12, 2018 (152)
85	ILLUMINA	ss3636899253	Oct 12, 2018 (152)
86	ILLUMINA	ss3637652277	Oct 12, 2018 (152)
87	ILLUMINA	ss3638748363	Oct 12, 2018 (152)
88	ILLUMINA	ss3639376745	Oct 12, 2018 (152)
89	ILLUMINA	ss3639983025	Oct 12, 2018 (152)
90	ILLUMINA	ss3640869461	Oct 12, 2018 (152)
91	ILLUMINA	ss3641225080	Oct 12, 2018 (152)
92	ILLUMINA	ss3641522721	Oct 12, 2018 (152)
93	ILLUMINA	ss3643680162	Oct 12, 2018 (152)
94	ILLUMINA	ss3644026583	Oct 12, 2018 (152)
95	URBANLAB	ss3648868465	Oct 12, 2018 (152)
96	EGCUT_WGS	ss3670484441	Jul 13, 2019 (153)
97	EVA_DECODE	ss3721555417	Jul 13, 2019 (153)
98	ACPOP	ss3735467021	Jul 13, 2019 (153)
99	ILLUMINA	ss3745461954	Jul 13, 2019 (153)
100	EVA	ss3767717736	Jul 13, 2019 (153)
101	ILLUMINA	ss3772954547	Jul 13, 2019 (153)
102	PACBIO	ss3786087354	Jul 13, 2019 (153)
103	PACBIO	ss3791353764	Jul 13, 2019 (153)
104	PACBIO	ss3796234931	Jul 13, 2019 (153)
105	KHV_HUMAN_GENOMES	ss3810881197	Jul 13, 2019 (153)
106	EVA	ss3831054892	Apr 26, 2020 (154)
107	EVA	ss3839037593	Apr 26, 2020 (154)
108	EVA	ss3844495617	Apr 26, 2020 (154)
109	HGDP	ss3847906861	Apr 26, 2020 (154)
110	SGDP_PRJ	ss3869436683	Apr 26, 2020 (154)
111	KRGDB	ss3916862510	Apr 26, 2020 (154)
112	KOGIC	ss3963402138	Apr 26, 2020 (154)
113	EVA	ss3985347107	Apr 27, 2021 (155)
114	EVA	ss4017379934	Apr 27, 2021 (155)
115	TOPMED	ss4778092463	Apr 27, 2021 (155)
116	TOMMO_GENOMICS	ss5187654362	Apr 27, 2021 (155)
117	EVA	ss5237438113	Apr 27, 2021 (155)
118	1000G_HIGH_COVERAGE	ss5276330115	Oct 14, 2022 (156)
119	EVA	ss5315316830	Oct 14, 2022 (156)
120	EVA	ss5379642060	Oct 14, 2022 (156)
121	HUGCELL_USP	ss5472980740	Oct 14, 2022 (156)
122	1000G_HIGH_COVERAGE	ss5566253943	Oct 14, 2022 (156)
123	SANFORD_IMAGENETICS	ss5644923809	Oct 14, 2022 (156)
124	TOMMO_GENOMICS	ss5729270944	Oct 14, 2022 (156)
125	EVA	ss5799750255	Oct 14, 2022 (156)
126	YY_MCH	ss5809516724	Oct 14, 2022 (156)
127	EVA	ss5830224447	Oct 14, 2022 (156)
128	EVA	ss5856287083	Oct 14, 2022 (156)
129	EVA	ss5888021432	Oct 14, 2022 (156)
130	EVA	ss5974104297	Oct 14, 2022 (156)
131	EVA	ss5979856482	Oct 14, 2022 (156)
132	1000Genomes	NC_000008.10 - 19811417	Oct 12, 2018 (152)
133	1000Genomes_30x	NC_000008.11 - 19953906	Oct 14, 2022 (156)
134	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 19811417	Oct 12, 2018 (152)
135	Chileans	NC_000008.10 - 19811417	Apr 26, 2020 (154)
136	Genome-wide autozygosity in Daghestan	NC_000008.9 - 19855697	Apr 26, 2020 (154)
137	Genetic variation in the Estonian population	NC_000008.10 - 19811417	Oct 12, 2018 (152)
138	The Danish reference pan genome	NC_000008.10 - 19811417	Apr 26, 2020 (154)
139	gnomAD - Genomes	NC_000008.11 - 19953906	Apr 27, 2021 (155)
140	Genome of the Netherlands Release 5	NC_000008.10 - 19811417	Apr 26, 2020 (154)
141	HGDP-CEPH-db Supplement 1	NC_000008.9 - 19855697	Apr 26, 2020 (154)
142	HapMap	NC_000008.11 - 19953906	Apr 26, 2020 (154)
143	KOREAN population from KRGDB	NC_000008.10 - 19811417	Apr 26, 2020 (154)
144	Korean Genome Project	NC_000008.11 - 19953906	Apr 26, 2020 (154)
145	Northern Sweden	NC_000008.10 - 19811417	Jul 13, 2019 (153)
146	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000008.10 - 19811417	Apr 27, 2021 (155)
147	Qatari	NC_000008.10 - 19811417	Apr 26, 2020 (154)
148	SGDP_PRJ	NC_000008.10 - 19811417	Apr 26, 2020 (154)
149	Siberian	NC_000008.10 - 19811417	Apr 26, 2020 (154)
150	8.3KJPN	NC_000008.10 - 19811417	Apr 27, 2021 (155)
151	14KJPN	NC_000008.11 - 19953906	Oct 14, 2022 (156)
152	TopMed	NC_000008.11 - 19953906	Apr 27, 2021 (155)
153	UK 10K study - Twins	NC_000008.10 - 19811417	Oct 12, 2018 (152)
154	A Vietnamese Genetic Variation Database	NC_000008.10 - 19811417	Jul 13, 2019 (153)
155	ALFA	NC_000008.11 - 19953906	Apr 27, 2021 (155)
156	ClinVar	RCV001654680.2	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)
rs17212417	Oct 08, 2004 (123)
rs57117714	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
24039904, ss3916862510	NC_000008.10:19811416:C:G	NC_000008.11:19953905:C:G	(self)
494088, 584753, ss76763838, ss78699628, ss112894495, ss115099780, ss115864224, ss162223981, ss164131584, ss166350911, ss198888074, ss254171388, ss279724007, ss285807988, ss294234326, ss480596887, ss1397520194, ss1594862259, ss1713021084, ss3639376745, ss3639983025, ss3643680162, ss3644026583, ss3847906861	NC_000008.9:19855696:C:T	NC_000008.11:19953905:C:T	(self)
41009803, 22797060, 429636, 16222689, 8758682, 10186917, 24039904, 8751886, 573034, 10604281, 21453663, 5718356, 45623669, 22797060, 5083457, ss223585619, ss234352463, ss241227287, ss480611126, ss481440750, ss485093636, ss537101326, ss560600099, ss655035536, ss778499186, ss782993112, ss783953842, ss832249961, ss832907672, ss833955268, ss985272601, ss1075339989, ss1328915061, ss1431441570, ss1582593744, ss1620133668, ss1663127701, ss1752723233, ss1805432771, ss1928562351, ss1970929926, ss2024980537, ss2153202002, ss2626975137, ss2634720438, ss2708962511, ss2864092678, ss2986076164, ss3002804413, ss3348082016, ss3630013628, ss3632620989, ss3633493722, ss3634220168, ss3635162171, ss3635899138, ss3636899253, ss3637652277, ss3638748363, ss3640869461, ss3641225080, ss3641522721, ss3670484441, ss3735467021, ss3745461954, ss3767717736, ss3772954547, ss3786087354, ss3791353764, ss3796234931, ss3831054892, ss3839037593, ss3869436683, ss3916862510, ss3985347107, ss4017379934, ss5187654362, ss5237438113, ss5315316830, ss5379642060, ss5644923809, ss5799750255, ss5830224447, ss5974104297, ss5979856482	NC_000008.10:19811416:C:T	NC_000008.11:19953905:C:T	(self)
RCV001654680.2, 53779878, 289194448, 3580966, 19780139, 63108048, 615470023, 3716707763, ss2301287794, ss3026281093, ss3648868465, ss3721555417, ss3810881197, ss3844495617, ss3963402138, ss4778092463, ss5276330115, ss5472980740, ss5566253943, ss5729270944, ss5809516724, ss5856287083, ss5888021432	NC_000008.11:19953905:C:T	NC_000008.11:19953905:C:T	(self)
ss20330568, ss22696037	NT_030737.8:7622337:C:T	NC_000008.11:19953905:C:T	(self)
ss253, ss4040274, ss6804714, ss24421397, ss44856993, ss67259588, ss67658456, ss68206902, ss69043146, ss70737933, ss71308404, ss75489716, ss83344070, ss98056375, ss104512502, ss134460727, ss153918359, ss159395942, ss160556633, ss173382803, ss244290988, ss410878525	NT_167187.1:7669562:C:T	NC_000008.11:19953905:C:T	(self)

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

5 citations for rs253

PMID	Title	Author	Year	Journal
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
21589926	Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks.	Turner SD et al.	2011	PloS one
21862952	Association between schizophrenia and single nucleotide polymorphisms in lipoprotein lipase gene in a Han Chinese population.	Xie C et al.	2011	Psychiatric genetics
23105935	Interaction Effects of Lipoprotein Lipase Polymorphisms with Lifestyle on Lipid Levels in a Korean Population: A Cross-sectional Study.	Pyun JA et al.	2012	Genomics & informatics
25329471	The challenges of genome-wide interaction studies: lessons to learn from the analysis of HDL blood levels.	van Leeuwen EM et al.	2014	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
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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

rs253