Name: rs316
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.

rs316

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:19960925 (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>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.157139 (41593/264690, TOPMED)
A=0.126636 (26878/212246, ALFA)
A=0.16207 (12755/78700, PAGE_STUDY) (+ 24 more)
A=0.06437 (1819/28258, 14KJPN)
A=0.06623 (1110/16760, 8.3KJPN)
A=0.15862 (2063/13006, GO-ESP)
A=0.1552 (994/6404, 1000G_30x)
A=0.1526 (764/5008, 1000G)
A=0.1699 (761/4480, Estonian)
A=0.1271 (490/3854, ALSPAC)
A=0.1160 (430/3708, TWINSUK)
A=0.0843 (247/2930, KOREAN)
A=0.1435 (299/2084, HGDP_Stanford)
A=0.1506 (284/1886, HapMap)
A=0.0813 (149/1832, Korea1K)
A=0.1558 (177/1136, Daghestan)
A=0.112 (112/998, GoNL)
A=0.081 (50/614, Vietnamese)
A=0.127 (76/600, NorthernSweden)
A=0.099 (53/534, MGP)
A=0.155 (47/304, FINRISK)
A=0.162 (35/216, Qatari)
C=0.415 (59/142, SGDP_PRJ)
A=0.13 (6/46, Ancient Sardinia)
A=0.12 (5/40, GENOME_DK)
C=0.50 (7/14, Siberian)
A=0.50 (7/14, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: LPL : Synonymous Variant
Publications: 6 citations
Genomic View: See rs on genome

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=0.842861	A=0.157139
Allele Frequency Aggregator	Total	Global	212246	C=0.873364	A=0.126636, T=0.000000
Allele Frequency Aggregator	European	Sub	183388	C=0.877075	A=0.122925, T=0.000000
Allele Frequency Aggregator	Other	Sub	10716	C=0.86273	A=0.13727, T=0.00000
Allele Frequency Aggregator	African	Sub	9146	C=0.8078	A=0.1922, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5000	C=0.8710	A=0.1290, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	2488	C=0.8871	A=0.1129, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1052	C=0.8508	A=0.1492, T=0.0000
Allele Frequency Aggregator	Asian	Sub	456	C=0.950	A=0.050, T=0.000
The PAGE Study	Global	Study-wide	78700	C=0.83793	A=0.16207
The PAGE Study	AfricanAmerican	Sub	32514	C=0.77653	A=0.22347
The PAGE Study	Mexican	Sub	10810	C=0.86531	A=0.13469
The PAGE Study	Asian	Sub	8318	C=0.9347	A=0.0653
The PAGE Study	PuertoRican	Sub	7918	C=0.8736	A=0.1264
The PAGE Study	NativeHawaiian	Sub	4534	C=0.9261	A=0.0739
The PAGE Study	Cuban	Sub	4230	C=0.8641	A=0.1359
The PAGE Study	Dominican	Sub	3828	C=0.8336	A=0.1664
The PAGE Study	CentralAmerican	Sub	2450	C=0.8498	A=0.1502
The PAGE Study	SouthAmerican	Sub	1982	C=0.8557	A=0.1443
The PAGE Study	NativeAmerican	Sub	1260	C=0.8500	A=0.1500
The PAGE Study	SouthAsian	Sub	856	C=0.884	A=0.116
14KJPN	JAPANESE	Study-wide	28258	C=0.93563	A=0.06437
8.3KJPN	JAPANESE	Study-wide	16760	C=0.93377	A=0.06623
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.84138	A=0.15862
GO Exome Sequencing Project	European American	Sub	8600	C=0.8773	A=0.1227
GO Exome Sequencing Project	African American	Sub	4406	C=0.7712	A=0.2288
1000Genomes_30x	Global	Study-wide	6404	C=0.8448	A=0.1552
1000Genomes_30x	African	Sub	1786	C=0.7637	A=0.2363
1000Genomes_30x	Europe	Sub	1266	C=0.8791	A=0.1209
1000Genomes_30x	South Asian	Sub	1202	C=0.8844	A=0.1156
1000Genomes_30x	East Asian	Sub	1170	C=0.8846	A=0.1154
1000Genomes_30x	American	Sub	980	C=0.852	A=0.148
1000Genomes	Global	Study-wide	5008	C=0.8474	A=0.1526
1000Genomes	African	Sub	1322	C=0.7632	A=0.2368
1000Genomes	East Asian	Sub	1008	C=0.8879	A=0.1121
1000Genomes	Europe	Sub	1006	C=0.8797	A=0.1203
1000Genomes	South Asian	Sub	978	C=0.881	A=0.119
1000Genomes	American	Sub	694	C=0.854	A=0.146
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8301	A=0.1699
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8729	A=0.1271
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8840	A=0.1160
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.9157	A=0.0843, G=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.8565	A=0.1435
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.894	A=0.106
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.857	A=0.143
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.891	A=0.109
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.856	A=0.144
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.777	A=0.223
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.889	A=0.111
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.61	A=0.39
HapMap	Global	Study-wide	1886	C=0.8494	A=0.1506
HapMap	American	Sub	770	C=0.890	A=0.110
HapMap	African	Sub	686	C=0.777	A=0.223
HapMap	Asian	Sub	254	C=0.902	A=0.098
HapMap	Europe	Sub	176	C=0.881	A=0.119
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9187	A=0.0813
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.8442	A=0.1558
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.807	A=0.193
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.910	A=0.090
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.869	A=0.131
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.926	A=0.074
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.86	A=0.14
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.86	A=0.14
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.888	A=0.112
A Vietnamese Genetic Variation Database	Global	Study-wide	614	C=0.919	A=0.081
Northern Sweden	ACPOP	Study-wide	600	C=0.873	A=0.127
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.901	A=0.099
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.845	A=0.155
Qatari	Global	Study-wide	216	C=0.838	A=0.162
SGDP_PRJ	Global	Study-wide	142	C=0.415	A=0.585
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	46	C=0.87	A=0.13
The Danish reference pan genome	Danish	Study-wide	40	C=0.88	A=0.12
Siberian	Global	Study-wide	14	C=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.19960925C>A
GRCh38.p14 chr 8	NC_000008.11:g.19960925C>G
GRCh38.p14 chr 8	NC_000008.11:g.19960925C>T
GRCh37.p13 chr 8	NC_000008.10:g.19818436C>A
GRCh37.p13 chr 8	NC_000008.10:g.19818436C>G
GRCh37.p13 chr 8	NC_000008.10:g.19818436C>T
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.64209C>A
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.64209C>G
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.64209C>T

Gene: LPL, lipoprotein lipase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LPL transcript	NM_000237.3:c.1164C>A	T [ACC] > T [ACA]	Coding Sequence Variant
lipoprotein lipase precursor	NP_000228.1:p.Thr388=	T (Thr) > T (Thr)	Synonymous Variant
LPL transcript	NM_000237.3:c.1164C>G	T [ACC] > T [ACG]	Coding Sequence Variant
lipoprotein lipase precursor	NP_000228.1:p.Thr388=	T (Thr) > T (Thr)	Synonymous Variant
LPL transcript	NM_000237.3:c.1164C>T	T [ACC] > T [ACT]	Coding Sequence Variant
lipoprotein lipase precursor	NP_000228.1:p.Thr388=	T (Thr) > T (Thr)	Synonymous 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: 308441 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000271225.5	Hyperlipoproteinemia, type I	Benign
RCV001519924.5	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=	A	G	T
GRCh38.p14 chr 8	NC_000008.11:g.19960925=	NC_000008.11:g.19960925C>A	NC_000008.11:g.19960925C>G	NC_000008.11:g.19960925C>T
GRCh37.p13 chr 8	NC_000008.10:g.19818436=	NC_000008.10:g.19818436C>A	NC_000008.10:g.19818436C>G	NC_000008.10:g.19818436C>T
LPL RefSeqGene (LRG_1298)	NG_008855.2:g.64209=	NG_008855.2:g.64209C>A	NG_008855.2:g.64209C>G	NG_008855.2:g.64209C>T
LPL transcript	NM_000237.3:c.1164=	NM_000237.3:c.1164C>A	NM_000237.3:c.1164C>G	NM_000237.3:c.1164C>T
LPL transcript	NM_000237.2:c.1164=	NM_000237.2:c.1164C>A	NM_000237.2:c.1164C>G	NM_000237.2:c.1164C>T
lipoprotein lipase precursor	NP_000228.1:p.Thr388=	NP_000228.1:p.Thr388=	NP_000228.1:p.Thr388=	NP_000228.1:p.Thr388=

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#.

159 SubSNP, 32 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	DEBNICK	ss316	Sep 19, 2000 (36)
2	WIAF-CSNP	ss7540	Sep 19, 2000 (52)
3	WI_SSAHASNP	ss6804718	Feb 20, 2003 (111)
4	BCM_SSAHASNP	ss10438845	Jul 11, 2003 (116)
5	IMCJ-GDT	ss16343023	Feb 27, 2004 (120)
6	PERLEGEN	ss23712779	Sep 20, 2004 (123)
7	ABI	ss44913101	Mar 13, 2006 (126)
8	APPLERA_GI	ss48420138	Mar 13, 2006 (126)
9	ILLUMINA	ss65738566	Oct 16, 2006 (127)
10	ILLUMINA	ss66839820	Dec 01, 2006 (127)
11	ILLUMINA	ss67292098	Dec 01, 2006 (127)
12	ILLUMINA	ss67695782	Dec 01, 2006 (127)
13	ILLUMINA	ss70770677	May 23, 2008 (130)
14	ILLUMINA	ss71345918	May 18, 2007 (127)
15	SI_EXO	ss71644840	May 18, 2007 (127)
16	ILLUMINA	ss75868923	Dec 07, 2007 (129)
17	ILLUMINA	ss79159544	Dec 14, 2007 (130)
18	HGSV	ss81107925	Dec 14, 2007 (130)
19	KRIBB_YJKIM	ss83344087	Dec 14, 2007 (130)
20	BGI	ss104512524	Dec 01, 2009 (131)
21	ILLUMINA-UK	ss115864242	Feb 14, 2009 (130)
22	ILLUMINA	ss122177350	Dec 01, 2009 (131)
23	ILLUMINA	ss154256057	Dec 01, 2009 (131)
24	ILLUMINA	ss159432657	Dec 01, 2009 (131)
25	SEATTLESEQ	ss159716544	Dec 01, 2009 (131)
26	ILLUMINA	ss160614773	Dec 01, 2009 (131)
27	ILLUMINA	ss171555419	Jul 04, 2010 (132)
28	ILLUMINA	ss173570861	Jul 04, 2010 (132)
29	BUSHMAN	ss198888173	Jul 04, 2010 (132)
30	1000GENOMES	ss217321424	Jul 14, 2010 (132)
31	1000GENOMES	ss217397628	Jul 14, 2010 (132)
32	1000GENOMES	ss217399171	Jul 14, 2010 (132)
33	1000GENOMES	ss217407228	Jul 14, 2010 (132)
34	1000GENOMES	ss217418287	Jul 14, 2010 (132)
35	1000GENOMES	ss217419012	Jul 14, 2010 (132)
36	1000GENOMES	ss217422419	Jul 14, 2010 (132)
37	1000GENOMES	ss223585660	Jul 14, 2010 (132)
38	1000GENOMES	ss234352494	Jul 15, 2010 (132)
39	1000GENOMES	ss241227311	Jul 15, 2010 (132)
40	ILLUMINA	ss244293965	Jul 04, 2010 (132)
41	GMI	ss279724036	May 04, 2012 (137)
42	PJP	ss294234339	May 09, 2011 (134)
43	NHLBI-ESP	ss342253790	May 09, 2011 (134)
44	ILLUMINA	ss480763861	May 04, 2012 (137)
45	ILLUMINA	ss480779676	May 04, 2012 (137)
46	ILLUMINA	ss481673464	Sep 08, 2015 (146)
47	ILLUMINA	ss485176647	May 04, 2012 (137)
48	1000GENOMES	ss490960924	May 04, 2012 (137)
49	CLINSEQ_SNP	ss491921991	May 04, 2012 (137)
50	ILLUMINA	ss537166316	Sep 08, 2015 (146)
51	TISHKOFF	ss560600148	Apr 25, 2013 (138)
52	SSMP	ss655035581	Apr 25, 2013 (138)
53	ILLUMINA	ss778516990	Sep 08, 2015 (146)
54	ILLUMINA	ss783034501	Sep 08, 2015 (146)
55	ILLUMINA	ss783994081	Sep 08, 2015 (146)
56	ILLUMINA	ss825490062	Jul 19, 2016 (147)
57	ILLUMINA	ss832292152	Sep 08, 2015 (146)
58	ILLUMINA	ss832944255	Jul 13, 2019 (153)
59	ILLUMINA	ss833973333	Sep 08, 2015 (146)
60	JMKIDD_LAB	ss974467410	Aug 21, 2014 (142)
61	EVA-GONL	ss985272671	Aug 21, 2014 (142)
62	JMKIDD_LAB	ss1067495948	Aug 21, 2014 (142)
63	JMKIDD_LAB	ss1075340046	Aug 21, 2014 (142)
64	1000GENOMES	ss1328915322	Aug 21, 2014 (142)
65	HAMMER_LAB	ss1397520206	Sep 08, 2015 (146)
66	DDI	ss1431441594	Apr 01, 2015 (144)
67	EVA_GENOME_DK	ss1582593779	Apr 01, 2015 (144)
68	EVA_FINRISK	ss1584057348	Apr 01, 2015 (144)
69	EVA_DECODE	ss1594862333	Apr 01, 2015 (144)
70	EVA_UK10K_ALSPAC	ss1620133794	Apr 01, 2015 (144)
71	EVA_UK10K_TWINSUK	ss1663127827	Apr 01, 2015 (144)
72	EVA_EXAC	ss1689111671	Apr 01, 2015 (144)
73	EVA_EXAC	ss1689111672	Apr 01, 2015 (144)
74	EVA_MGP	ss1711194714	Apr 01, 2015 (144)
75	EVA_SVP	ss1713021097	Apr 01, 2015 (144)
76	ILLUMINA	ss1752723243	Sep 08, 2015 (146)
77	HAMMER_LAB	ss1805432808	Sep 08, 2015 (146)
78	WEILL_CORNELL_DGM	ss1928562428	Feb 12, 2016 (147)
79	ILLUMINA	ss1959093901	Feb 12, 2016 (147)
80	GENOMED	ss1970929948	Jul 19, 2016 (147)
81	JJLAB	ss2024980581	Sep 14, 2016 (149)
82	ILLUMINA	ss2095209245	Dec 20, 2016 (150)
83	USC_VALOUEV	ss2153202042	Dec 20, 2016 (150)
84	HUMAN_LONGEVITY	ss2301288326	Dec 20, 2016 (150)
85	SYSTEMSBIOZJU	ss2626975168	Nov 08, 2017 (151)
86	ILLUMINA	ss2634720462	Nov 08, 2017 (151)
87	ILLUMINA	ss2635180597	Nov 08, 2017 (151)
88	GRF	ss2708962550	Nov 08, 2017 (151)
89	GNOMAD	ss2737022496	Nov 08, 2017 (151)
90	GNOMAD	ss2748007766	Nov 08, 2017 (151)
91	GNOMAD	ss2864093318	Nov 08, 2017 (151)
92	AFFY	ss2986076205	Nov 08, 2017 (151)
93	SWEGEN	ss3002804493	Nov 08, 2017 (151)
94	ILLUMINA	ss3022826098	Nov 08, 2017 (151)
95	BIOINF_KMB_FNS_UNIBA	ss3026281123	Nov 08, 2017 (151)
96	CSHL	ss3348082051	Nov 08, 2017 (151)
97	ILLUMINA	ss3630013659	Oct 12, 2018 (152)
98	ILLUMINA	ss3632621003	Oct 12, 2018 (152)
99	ILLUMINA	ss3633493726	Oct 12, 2018 (152)
100	ILLUMINA	ss3634220172	Oct 12, 2018 (152)
101	ILLUMINA	ss3635162181	Oct 12, 2018 (152)
102	ILLUMINA	ss3635899142	Oct 12, 2018 (152)
103	ILLUMINA	ss3636899259	Oct 12, 2018 (152)
104	ILLUMINA	ss3637652281	Oct 12, 2018 (152)
105	ILLUMINA	ss3638748375	Oct 12, 2018 (152)
106	ILLUMINA	ss3639376749	Oct 12, 2018 (152)
107	ILLUMINA	ss3639717194	Oct 12, 2018 (152)
108	ILLUMINA	ss3640869471	Oct 12, 2018 (152)
109	ILLUMINA	ss3643680173	Oct 12, 2018 (152)
110	OMUKHERJEE_ADBS	ss3646373024	Oct 12, 2018 (152)
111	ILLUMINA	ss3653367053	Oct 12, 2018 (152)
112	ILLUMINA	ss3653367054	Oct 12, 2018 (152)
113	EGCUT_WGS	ss3670484541	Jul 13, 2019 (153)
114	EVA_DECODE	ss3721555526	Jul 13, 2019 (153)
115	ILLUMINA	ss3726520371	Jul 13, 2019 (153)
116	ACPOP	ss3735467078	Jul 13, 2019 (153)
117	ILLUMINA	ss3745461964	Jul 13, 2019 (153)
118	EVA	ss3767717811	Jul 13, 2019 (153)
119	PAGE_CC	ss3771428698	Jul 13, 2019 (153)
120	ILLUMINA	ss3772954557	Jul 13, 2019 (153)
121	KHV_HUMAN_GENOMES	ss3810881286	Jul 13, 2019 (153)
122	EVA	ss3824351425	Apr 26, 2020 (154)
123	EVA	ss3825737080	Apr 26, 2020 (154)
124	EVA	ss3831054936	Apr 26, 2020 (154)
125	HGDP	ss3847906866	Apr 26, 2020 (154)
126	SGDP_PRJ	ss3869436789	Apr 26, 2020 (154)
127	KRGDB	ss3916862633	Apr 26, 2020 (154)
128	KOGIC	ss3963402263	Apr 26, 2020 (154)
129	FSA-LAB	ss3984393703	Apr 27, 2021 (155)
130	FSA-LAB	ss3984393704	Apr 27, 2021 (155)
131	EVA	ss3985347118	Apr 27, 2021 (155)
132	EVA	ss3986415488	Apr 27, 2021 (155)
133	TOPMED	ss4778094408	Apr 27, 2021 (155)
134	TOMMO_GENOMICS	ss5187654605	Apr 27, 2021 (155)
135	EVA	ss5237041072	Apr 27, 2021 (155)
136	EVA	ss5237438119	Apr 27, 2021 (155)
137	EVA	ss5237651002	Oct 14, 2022 (156)
138	1000G_HIGH_COVERAGE	ss5276330319	Oct 14, 2022 (156)
139	TRAN_CS_UWATERLOO	ss5314422738	Oct 14, 2022 (156)
140	EVA	ss5315316842	Oct 14, 2022 (156)
141	EVA	ss5379642466	Oct 14, 2022 (156)
142	HUGCELL_USP	ss5472980928	Oct 14, 2022 (156)
143	EVA	ss5509275484	Oct 14, 2022 (156)
144	1000G_HIGH_COVERAGE	ss5566254266	Oct 14, 2022 (156)
145	EVA	ss5623943196	Oct 14, 2022 (156)
146	EVA	ss5624176084	Oct 14, 2022 (156)
147	SANFORD_IMAGENETICS	ss5624687996	Oct 14, 2022 (156)
148	SANFORD_IMAGENETICS	ss5644923939	Oct 14, 2022 (156)
149	TOMMO_GENOMICS	ss5729271253	Oct 14, 2022 (156)
150	EVA	ss5799750258	Oct 14, 2022 (156)
151	EVA	ss5800145668	Oct 14, 2022 (156)
152	YY_MCH	ss5809516772	Oct 14, 2022 (156)
153	EVA	ss5830224521	Oct 14, 2022 (156)
154	EVA	ss5847335292	Oct 14, 2022 (156)
155	EVA	ss5848169559	Oct 14, 2022 (156)
156	EVA	ss5848702268	Oct 14, 2022 (156)
157	EVA	ss5888021692	Oct 14, 2022 (156)
158	EVA	ss5974104439	Oct 14, 2022 (156)
159	EVA	ss5979856496	Oct 14, 2022 (156)
160	1000Genomes	NC_000008.10 - 19818436	Oct 12, 2018 (152)
161	1000Genomes_30x	NC_000008.11 - 19960925	Oct 14, 2022 (156)
162	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 19818436	Oct 12, 2018 (152)
163	Genome-wide autozygosity in Daghestan	NC_000008.9 - 19862716	Apr 26, 2020 (154)
164	Genetic variation in the Estonian population	NC_000008.10 - 19818436	Oct 12, 2018 (152)
165	ExAC Submission ignored due to conflicting rows: Row 9205269 (NC_000008.10:19818435:C:C 104838/121328, NC_000008.10:19818435:C:A 16490/121328) Row 9205270 (NC_000008.10:19818435:C:C 121327/121328, NC_000008.10:19818435:C:T 1/121328)	-	Oct 12, 2018 (152)
166	ExAC Submission ignored due to conflicting rows: Row 9205269 (NC_000008.10:19818435:C:C 104838/121328, NC_000008.10:19818435:C:A 16490/121328) Row 9205270 (NC_000008.10:19818435:C:C 121327/121328, NC_000008.10:19818435:C:T 1/121328)	-	Oct 12, 2018 (152)
167	FINRISK	NC_000008.10 - 19818436	Apr 26, 2020 (154)
168	The Danish reference pan genome	NC_000008.10 - 19818436	Apr 26, 2020 (154)
169	gnomAD - Genomes Submission ignored due to conflicting rows: Row 289196072 (NC_000008.11:19960924:C:A 22120/139928) Row 289196073 (NC_000008.11:19960924:C:T 1/139960)	-	Apr 27, 2021 (155)
170	gnomAD - Genomes Submission ignored due to conflicting rows: Row 289196072 (NC_000008.11:19960924:C:A 22120/139928) Row 289196073 (NC_000008.11:19960924:C:T 1/139960)	-	Apr 27, 2021 (155)
171	gnomAD - Exomes Submission ignored due to conflicting rows: Row 6190898 (NC_000008.10:19818435:C:C 217505/251348, NC_000008.10:19818435:C:A 33843/251348) Row 6190899 (NC_000008.10:19818435:C:C 251347/251348, NC_000008.10:19818435:C:T 1/251348)	-	Jul 13, 2019 (153)
172	gnomAD - Exomes Submission ignored due to conflicting rows: Row 6190898 (NC_000008.10:19818435:C:C 217505/251348, NC_000008.10:19818435:C:A 33843/251348) Row 6190899 (NC_000008.10:19818435:C:C 251347/251348, NC_000008.10:19818435:C:T 1/251348)	-	Jul 13, 2019 (153)
173	GO Exome Sequencing Project	NC_000008.10 - 19818436	Oct 12, 2018 (152)
174	Genome of the Netherlands Release 5	NC_000008.10 - 19818436	Apr 26, 2020 (154)
175	HGDP-CEPH-db Supplement 1	NC_000008.9 - 19862716	Apr 26, 2020 (154)
176	HapMap	NC_000008.11 - 19960925	Apr 26, 2020 (154)
177	KOREAN population from KRGDB	NC_000008.10 - 19818436	Apr 26, 2020 (154)
178	Korean Genome Project	NC_000008.11 - 19960925	Apr 26, 2020 (154)
179	Medical Genome Project healthy controls from Spanish population	NC_000008.10 - 19818436	Apr 26, 2020 (154)
180	Northern Sweden	NC_000008.10 - 19818436	Jul 13, 2019 (153)
181	The PAGE Study	NC_000008.11 - 19960925	Jul 13, 2019 (153)
182	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000008.10 - 19818436	Apr 27, 2021 (155)
183	Qatari	NC_000008.10 - 19818436	Apr 26, 2020 (154)
184	SGDP_PRJ	NC_000008.10 - 19818436	Apr 26, 2020 (154)
185	Siberian	NC_000008.10 - 19818436	Apr 26, 2020 (154)
186	8.3KJPN	NC_000008.10 - 19818436	Apr 27, 2021 (155)
187	14KJPN	NC_000008.11 - 19960925	Oct 14, 2022 (156)
188	TopMed	NC_000008.11 - 19960925	Apr 27, 2021 (155)
189	UK 10K study - Twins	NC_000008.10 - 19818436	Oct 12, 2018 (152)
190	A Vietnamese Genetic Variation Database	NC_000008.10 - 19818436	Jul 13, 2019 (153)
191	ALFA	NC_000008.11 - 19960925	Apr 27, 2021 (155)
192	ClinVar	RCV000271225.5	Oct 14, 2022 (156)
193	ClinVar	RCV001519924.5	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)
rs57192407	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
494100, 584758, ss81107925, ss115864242, ss198888173, ss217321424, ss217397628, ss217399171, ss217407228, ss217418287, ss217419012, ss217422419, ss279724036, ss294234339, ss480763861, ss491921991, ss825490062, ss1397520206, ss1594862333, ss1713021097, ss2635180597, ss3639376749, ss3639717194, ss3643680173, ss3847906866	NC_000008.9:19862715:C:A	NC_000008.11:19960924:C:A	(self)
41010071, 22797196, 16222789, 53809, 8758717, 809276, 10186984, 24040027, 310474, 8751943, 573045, 10604358, 21453769, 5718396, 45623912, 22797196, 5083498, ss223585660, ss234352494, ss241227311, ss342253790, ss480779676, ss481673464, ss485176647, ss490960924, ss537166316, ss560600148, ss655035581, ss778516990, ss783034501, ss783994081, ss832292152, ss832944255, ss833973333, ss974467410, ss985272671, ss1067495948, ss1075340046, ss1328915322, ss1431441594, ss1582593779, ss1584057348, ss1620133794, ss1663127827, ss1689111671, ss1711194714, ss1752723243, ss1805432808, ss1928562428, ss1959093901, ss1970929948, ss2024980581, ss2095209245, ss2153202042, ss2626975168, ss2634720462, ss2708962550, ss2737022496, ss2748007766, ss2864093318, ss2986076205, ss3002804493, ss3022826098, ss3348082051, ss3630013659, ss3632621003, ss3633493726, ss3634220172, ss3635162181, ss3635899142, ss3636899259, ss3637652281, ss3638748375, ss3640869471, ss3646373024, ss3653367053, ss3653367054, ss3670484541, ss3735467078, ss3745461964, ss3767717811, ss3772954557, ss3824351425, ss3825737080, ss3831054936, ss3869436789, ss3916862633, ss3984393703, ss3984393704, ss3985347118, ss3986415488, ss5187654605, ss5237438119, ss5315316842, ss5379642466, ss5509275484, ss5623943196, ss5624176084, ss5624687996, ss5644923939, ss5799750258, ss5800145668, ss5830224521, ss5847335292, ss5848169559, ss5848702268, ss5974104439, ss5979856496	NC_000008.10:19818435:C:A	NC_000008.11:19960924:C:A	(self)
RCV000271225.5, RCV001519924.5, 53780201, 3581002, 19780264, 650167, 63108357, 615471968, 3662733365, ss2301288326, ss3026281123, ss3721555526, ss3726520371, ss3771428698, ss3810881286, ss3963402263, ss4778094408, ss5237041072, ss5237651002, ss5276330319, ss5314422738, ss5472980928, ss5566254266, ss5729271253, ss5809516772, ss5888021692	NC_000008.11:19960924:C:A	NC_000008.11:19960924:C:A	(self)
ss10438845	NT_030737.7:3539659:C:A	NC_000008.11:19960924:C:A	(self)
ss316, ss7540, ss6804718, ss16343023, ss23712779, ss44913101, ss48420138, ss65738566, ss66839820, ss67292098, ss67695782, ss70770677, ss71345918, ss71644840, ss75868923, ss79159544, ss83344087, ss104512524, ss122177350, ss154256057, ss159432657, ss159716544, ss160614773, ss171555419, ss173570861, ss244293965	NT_167187.1:7676581:C:A	NC_000008.11:19960924:C:A	(self)
24040027, ss3916862633	NC_000008.10:19818435:C:G	NC_000008.11:19960924:C:G	(self)
ss1689111672, ss2737022496	NC_000008.10:19818435:C:T	NC_000008.11:19960924:C:T	(self)
3662733365	NC_000008.11:19960924:C:T	NC_000008.11:19960924:C:T	(self)

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

6 citations for rs316

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
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
22229114	Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.	Carlquist JF et al.	2011	Journal of clinical & experimental cardiology
24491308	Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men.	Cartwright R et al.	2014	European urology
25626708	Resequencing of LPL in African Blacks and associations with lipoprotein-lipid levels.	Pirim D et al.	2015	European journal of human genetics
35241092	LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.	Perrone B et al.	2022	Journal of translational medicine

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

rs316