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dbSNP Short Genetic Variations

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.

rs326

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr8:19961928 (GRCh38.p13) 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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.379478 (100444/264690, TOPMED)
G=0.310641 (56879/183102, ALFA)
G=0.375763 (52594/139966, GnomAD) (+ 22 more)
G=0.39235 (30873/78688, PAGE_STUDY)
G=0.19696 (3301/16760, 8.3KJPN)
G=0.3494 (1750/5008, 1000G)
G=0.2728 (1222/4480, Estonian)
G=0.2940 (1133/3854, ALSPAC)
G=0.2956 (1096/3708, TWINSUK)
G=0.2085 (611/2930, KOREAN)
G=0.3922 (742/1892, HapMap)
G=0.2020 (370/1832, Korea1K)
G=0.3171 (359/1132, Daghestan)
G=0.296 (295/998, GoNL)
G=0.176 (138/786, PRJEB37584)
G=0.288 (180/626, Chileans)
G=0.263 (158/600, NorthernSweden)
G=0.015 (8/534, MGP)
A=0.390 (117/300, SGDP_PRJ)
G=0.412 (89/216, Qatari)
G=0.181 (39/216, Vietnamese)
G=0.29 (22/76, Ancient Sardinia)
G=0.23 (9/40, GENOME_DK)
A=0.50 (11/22, Siberian)
G=0.50 (11/22, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
LPL : Intron Variant
Publications
14 citations
Genomic View
See rs on genome
Help

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.p13 chr 8 NC_000008.11:g.19961928A>G
GRCh37.p13 chr 8 NC_000008.10:g.19819439A>G
LPL RefSeqGene (LRG_1298) NG_008855.2:g.65212A>G
Gene: LPL, lipoprotein lipase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LPL transcript NM_000237.3:c.1323-187A>G N/A Intron Variant
Help

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: G (allele ID: 16598 )
ClinVar Accession Disease Names Clinical Significance
RCV000001625.4 High density lipoprotein cholesterol level quantitative trait locus 11 Association

ALFA Allele Frequency (New)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 183102 A=0.689359 G=0.310641
European Sub 154528 A=0.694994 G=0.305006
African Sub 7226 A=0.4410 G=0.5590
African Others Sub 264 A=0.348 G=0.652
African American Sub 6962 A=0.4446 G=0.5554
Asian Sub 6336 A=0.7997 G=0.2003
East Asian Sub 4486 A=0.7998 G=0.2002
Other Asian Sub 1850 A=0.7995 G=0.2005
Latin American 1 Sub 588 A=0.668 G=0.332
Latin American 2 Sub 3108 A=0.7085 G=0.2915
South Asian Sub 294 A=0.755 G=0.245
Other Sub 11022 A=0.70368 G=0.29632


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.620522 G=0.379478
gnomAD - Genomes Global Study-wide 139966 A=0.624237 G=0.375763
gnomAD - Genomes European Sub 75862 A=0.70532 G=0.29468
gnomAD - Genomes African Sub 41898 A=0.44649 G=0.55351
gnomAD - Genomes American Sub 13626 A=0.69199 G=0.30801
gnomAD - Genomes Ashkenazi Jewish Sub 3316 A=0.5546 G=0.4454
gnomAD - Genomes East Asian Sub 3118 A=0.7996 G=0.2004
gnomAD - Genomes Other Sub 2146 A=0.6510 G=0.3490
The PAGE Study Global Study-wide 78688 A=0.60765 G=0.39235
The PAGE Study AfricanAmerican Sub 32506 A=0.45367 G=0.54633
The PAGE Study Mexican Sub 10810 A=0.72794 G=0.27206
The PAGE Study Asian Sub 8316 A=0.8129 G=0.1871
The PAGE Study PuertoRican Sub 7918 A=0.6464 G=0.3536
The PAGE Study NativeHawaiian Sub 4534 A=0.8187 G=0.1813
The PAGE Study Cuban Sub 4228 A=0.6407 G=0.3593
The PAGE Study Dominican Sub 3828 A=0.5831 G=0.4169
The PAGE Study CentralAmerican Sub 2450 A=0.6984 G=0.3016
The PAGE Study SouthAmerican Sub 1982 A=0.7180 G=0.2820
The PAGE Study NativeAmerican Sub 1260 A=0.7016 G=0.2984
The PAGE Study SouthAsian Sub 856 A=0.759 G=0.241
8.3KJPN JAPANESE Study-wide 16760 A=0.80304 G=0.19696
1000Genomes Global Study-wide 5008 A=0.6506 G=0.3494
1000Genomes African Sub 1322 A=0.4138 G=0.5862
1000Genomes East Asian Sub 1008 A=0.7659 G=0.2341
1000Genomes Europe Sub 1006 A=0.6730 G=0.3270
1000Genomes South Asian Sub 978 A=0.784 G=0.216
1000Genomes American Sub 694 A=0.713 G=0.287
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.7272 G=0.2728
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7060 G=0.2940
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7044 G=0.2956
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.7915 G=0.2085
HapMap Global Study-wide 1892 A=0.6078 G=0.3922
HapMap American Sub 770 A=0.738 G=0.262
HapMap African Sub 692 A=0.389 G=0.611
HapMap Asian Sub 254 A=0.787 G=0.213
HapMap Europe Sub 176 A=0.642 G=0.358
Korean Genome Project KOREAN Study-wide 1832 A=0.7980 G=0.2020
Genome-wide autozygosity in Daghestan Global Study-wide 1132 A=0.6829 G=0.3171
Genome-wide autozygosity in Daghestan Daghestan Sub 624 A=0.683 G=0.317
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.646 G=0.354
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.730 G=0.270
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.657 G=0.343
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.69 G=0.31
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.72 G=0.28
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.704 G=0.296
CNV burdens in cranial meningiomas Global Study-wide 786 A=0.824 G=0.176
CNV burdens in cranial meningiomas CRM Sub 786 A=0.824 G=0.176
Chileans Chilean Study-wide 626 A=0.712 G=0.288
Northern Sweden ACPOP Study-wide 600 A=0.737 G=0.263
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.985 G=0.015
SGDP_PRJ Global Study-wide 300 A=0.390 G=0.610
Qatari Global Study-wide 216 A=0.588 G=0.412
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.819 G=0.181
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 76 A=0.71 G=0.29
The Danish reference pan genome Danish Study-wide 40 A=0.78 G=0.23
Siberian Global Study-wide 22 A=0.50 G=0.50
Help

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 A= G
GRCh38.p13 chr 8 NC_000008.11:g.19961928= NC_000008.11:g.19961928A>G
GRCh37.p13 chr 8 NC_000008.10:g.19819439= NC_000008.10:g.19819439A>G
LPL RefSeqGene (LRG_1298) NG_008855.2:g.65212= NG_008855.2:g.65212A>G
LPL transcript NM_000237.2:c.1323-187= NM_000237.2:c.1323-187A>G
LPL transcript NM_000237.3:c.1323-187= NM_000237.3:c.1323-187A>G
Help

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#.

106 SubSNP, 24 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 DEBNICK ss327 Sep 19, 2000 (36)
2 YUSUKE ss4921958 Aug 28, 2002 (108)
3 BCM_SSAHASNP ss10432513 Jul 11, 2003 (116)
4 SNP500CANCER ss12675525 Nov 17, 2003 (118)
5 SSAHASNP ss22669696 Apr 05, 2004 (121)
6 PERLEGEN ss24648902 Sep 20, 2004 (123)
7 ABI ss44867931 Mar 13, 2006 (126)
8 PERLEGEN ss69043154 May 17, 2007 (127)
9 SI_EXO ss71642295 May 17, 2007 (127)
10 AFFY ss76699274 Dec 08, 2007 (130)
11 HGSV ss82013098 Dec 14, 2007 (130)
12 HGSV ss84378333 Dec 14, 2007 (130)
13 BCMHGSC_JDW ss93851532 Mar 25, 2008 (129)
14 HUMANGENOME_JCVI ss98056386 Feb 04, 2009 (130)
15 BGI ss104512528 Dec 01, 2009 (131)
16 KRIBB_YJKIM ss104807677 Feb 04, 2009 (130)
17 1000GENOMES ss115099867 Jan 25, 2009 (130)
18 ILLUMINA-UK ss115864245 Feb 14, 2009 (130)
19 ENSEMBL ss143589397 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss164131695 Jul 04, 2010 (132)
21 PAGE_STUDY ss181835742 Jul 04, 2010 (132)
22 BUSHMAN ss198888189 Jul 04, 2010 (132)
23 BCM-HGSC-SUB ss208655061 Jul 04, 2010 (132)
24 1000GENOMES ss223585668 Jul 14, 2010 (132)
25 1000GENOMES ss234352502 Jul 15, 2010 (132)
26 1000GENOMES ss241227317 Jul 15, 2010 (132)
27 BL ss254171508 May 09, 2011 (134)
28 GMI ss279724043 May 04, 2012 (137)
29 PJP ss294234343 May 09, 2011 (134)
30 ILLUMINA ss410878566 Sep 17, 2011 (135)
31 EXOME_CHIP ss491410898 May 04, 2012 (137)
32 TISHKOFF ss560600154 Apr 25, 2013 (138)
33 SSMP ss655035590 Apr 25, 2013 (138)
34 ILLUMINA ss780684536 Aug 21, 2014 (142)
35 ILLUMINA ss783357985 Aug 21, 2014 (142)
36 EVA-GONL ss985272681 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1075340055 Aug 21, 2014 (142)
38 1000GENOMES ss1328915345 Aug 21, 2014 (142)
39 HAMMER_LAB ss1397520210 Sep 08, 2015 (146)
40 DDI ss1431441598 Apr 01, 2015 (144)
41 OMIM-CURATED-RECORDS ss1505810755 Dec 08, 2014 (142)
42 EVA_GENOME_DK ss1582593786 Apr 01, 2015 (144)
43 EVA_DECODE ss1594862342 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1620133811 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1663127844 Apr 01, 2015 (144)
46 EVA_MGP ss1711194715 Apr 01, 2015 (144)
47 EVA_SVP ss1713021098 Apr 01, 2015 (144)
48 ILLUMINA ss1752723246 Sep 08, 2015 (146)
49 HAMMER_LAB ss1805432814 Sep 08, 2015 (146)
50 ILLUMINA ss1917826327 Feb 12, 2016 (147)
51 WEILL_CORNELL_DGM ss1928562437 Feb 12, 2016 (147)
52 ILLUMINA ss1946231546 Feb 12, 2016 (147)
53 ILLUMINA ss1959093911 Feb 12, 2016 (147)
54 GENOMED ss1970929954 Jul 19, 2016 (147)
55 JJLAB ss2024980589 Sep 14, 2016 (149)
56 ILLUMINA ss2094832980 Dec 20, 2016 (150)
57 ILLUMINA ss2095209246 Dec 20, 2016 (150)
58 USC_VALOUEV ss2153202049 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2301288386 Dec 20, 2016 (150)
60 TOPMED ss2470946257 Dec 20, 2016 (150)
61 SYSTEMSBIOZJU ss2626975172 Nov 08, 2017 (151)
62 ILLUMINA ss2634720466 Nov 08, 2017 (151)
63 ILLUMINA ss2634720467 Nov 08, 2017 (151)
64 GRF ss2708962558 Nov 08, 2017 (151)
65 GNOMAD ss2864093386 Nov 08, 2017 (151)
66 AFFY ss2985433062 Nov 08, 2017 (151)
67 AFFY ss2986076213 Nov 08, 2017 (151)
68 SWEGEN ss3002804509 Nov 08, 2017 (151)
69 ILLUMINA ss3022826108 Nov 08, 2017 (151)
70 BIOINF_KMB_FNS_UNIBA ss3026281128 Nov 08, 2017 (151)
71 CSHL ss3348082057 Nov 08, 2017 (151)
72 TOPMED ss3555883957 Nov 08, 2017 (151)
73 ILLUMINA ss3630013663 Oct 12, 2018 (152)
74 ILLUMINA ss3635162184 Oct 12, 2018 (152)
75 ILLUMINA ss3640869474 Oct 12, 2018 (152)
76 ILLUMINA ss3644964720 Oct 12, 2018 (152)
77 URBANLAB ss3648868479 Oct 12, 2018 (152)
78 ILLUMINA ss3653367064 Oct 12, 2018 (152)
79 ILLUMINA ss3653367065 Oct 12, 2018 (152)
80 ILLUMINA ss3654194876 Oct 12, 2018 (152)
81 EGCUT_WGS ss3670484554 Jul 13, 2019 (153)
82 EVA_DECODE ss3721555544 Jul 13, 2019 (153)
83 ILLUMINA ss3726520379 Jul 13, 2019 (153)
84 ACPOP ss3735467089 Jul 13, 2019 (153)
85 ILLUMINA ss3744577757 Jul 13, 2019 (153)
86 ILLUMINA ss3745461967 Jul 13, 2019 (153)
87 EVA ss3767717820 Jul 13, 2019 (153)
88 PAGE_CC ss3771428706 Jul 13, 2019 (153)
89 ILLUMINA ss3772954560 Jul 13, 2019 (153)
90 PACBIO ss3786087388 Jul 13, 2019 (153)
91 PACBIO ss3791353793 Jul 13, 2019 (153)
92 PACBIO ss3796234960 Jul 13, 2019 (153)
93 KHV_HUMAN_GENOMES ss3810881299 Jul 13, 2019 (153)
94 EVA ss3831054945 Apr 26, 2020 (154)
95 EVA ss3839037607 Apr 26, 2020 (154)
96 EVA ss3844495631 Apr 26, 2020 (154)
97 SGDP_PRJ ss3869436809 Apr 26, 2020 (154)
98 KRGDB ss3916862656 Apr 26, 2020 (154)
99 KOGIC ss3963402276 Apr 26, 2020 (154)
100 FSA-LAB ss3984393705 Apr 27, 2021 (155)
101 FSA-LAB ss3984393706 Apr 27, 2021 (155)
102 EVA ss3984602265 Apr 27, 2021 (155)
103 EVA ss3985347120 Apr 27, 2021 (155)
104 TOPMED ss4778094665 Apr 27, 2021 (155)
105 TOMMO_GENOMICS ss5187654651 Apr 27, 2021 (155)
106 EVA ss5237438122 Apr 27, 2021 (155)
107 1000Genomes NC_000008.10 - 19819439 Oct 12, 2018 (152)
108 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 19819439 Oct 12, 2018 (152)
109 Chileans NC_000008.10 - 19819439 Apr 26, 2020 (154)
110 Genome-wide autozygosity in Daghestan NC_000008.9 - 19863719 Apr 26, 2020 (154)
111 Genetic variation in the Estonian population NC_000008.10 - 19819439 Oct 12, 2018 (152)
112 The Danish reference pan genome NC_000008.10 - 19819439 Apr 26, 2020 (154)
113 gnomAD - Genomes NC_000008.11 - 19961928 Apr 27, 2021 (155)
114 Genome of the Netherlands Release 5 NC_000008.10 - 19819439 Apr 26, 2020 (154)
115 HapMap NC_000008.11 - 19961928 Apr 26, 2020 (154)
116 KOREAN population from KRGDB NC_000008.10 - 19819439 Apr 26, 2020 (154)
117 Korean Genome Project NC_000008.11 - 19961928 Apr 26, 2020 (154)
118 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 19819439 Apr 26, 2020 (154)
119 Northern Sweden NC_000008.10 - 19819439 Jul 13, 2019 (153)
120 The PAGE Study NC_000008.11 - 19961928 Jul 13, 2019 (153)
121 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 19819439 Apr 27, 2021 (155)
122 CNV burdens in cranial meningiomas NC_000008.10 - 19819439 Apr 27, 2021 (155)
123 Qatari NC_000008.10 - 19819439 Apr 26, 2020 (154)
124 SGDP_PRJ NC_000008.10 - 19819439 Apr 26, 2020 (154)
125 Siberian NC_000008.10 - 19819439 Apr 26, 2020 (154)
126 8.3KJPN NC_000008.10 - 19819439 Apr 27, 2021 (155)
127 TopMed NC_000008.11 - 19961928 Apr 27, 2021 (155)
128 UK 10K study - Twins NC_000008.10 - 19819439 Oct 12, 2018 (152)
129 A Vietnamese Genetic Variation Database NC_000008.10 - 19819439 Jul 13, 2019 (153)
130 ALFA NC_000008.11 - 19961928 Apr 27, 2021 (155)
131 ClinVar RCV000001625.4 Jul 13, 2019 (153)
Help

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)
rs3735960 Oct 08, 2002 (108)
rs17410667 Oct 08, 2004 (123)
rs56464365 May 23, 2008 (130)
rs57219486 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
494104, ss82013098, ss84378333, ss93851532, ss115099867, ss115864245, ss164131695, ss198888189, ss208655061, ss254171508, ss279724043, ss294234343, ss410878566, ss1397520210, ss1594862342, ss1713021098 NC_000008.9:19863718:A:G NC_000008.11:19961927:A:G (self)
41010096, 22797215, 429642, 16222802, 8758724, 10186994, 24040050, 310475, 8751954, 573047, 151701, 10604367, 21453789, 5718403, 45623958, 22797215, 5083502, ss223585668, ss234352502, ss241227317, ss491410898, ss560600154, ss655035590, ss780684536, ss783357985, ss985272681, ss1075340055, ss1328915345, ss1431441598, ss1582593786, ss1620133811, ss1663127844, ss1711194715, ss1752723246, ss1805432814, ss1917826327, ss1928562437, ss1946231546, ss1959093911, ss1970929954, ss2024980589, ss2094832980, ss2095209246, ss2153202049, ss2470946257, ss2626975172, ss2634720466, ss2634720467, ss2708962558, ss2864093386, ss2985433062, ss2986076213, ss3002804509, ss3022826108, ss3348082057, ss3630013663, ss3635162184, ss3640869474, ss3644964720, ss3653367064, ss3653367065, ss3654194876, ss3670484554, ss3735467089, ss3744577757, ss3745461967, ss3767717820, ss3772954560, ss3786087388, ss3791353793, ss3796234960, ss3831054945, ss3839037607, ss3869436809, ss3916862656, ss3984393705, ss3984393706, ss3984602265, ss3985347120, ss5187654651, ss5237438122 NC_000008.10:19819438:A:G NC_000008.11:19961927:A:G (self)
RCV000001625.4, 289196292, 3581008, 19780277, 650175, 384683326, 615472225, 10375471511, ss1505810755, ss2301288386, ss3026281128, ss3555883957, ss3648868479, ss3721555544, ss3726520379, ss3771428706, ss3810881299, ss3844495631, ss3963402276, ss4778094665 NC_000008.11:19961927:A:G NC_000008.11:19961927:A:G (self)
ss10432513 NT_030737.7:3540662:A:G NC_000008.11:19961927:A:G (self)
ss22669696 NT_030737.8:7630359:A:G NC_000008.11:19961927:A:G (self)
ss327, ss4921958, ss12675525, ss24648902, ss44867931, ss69043154, ss71642295, ss76699274, ss98056386, ss104512528, ss104807677, ss143589397, ss181835742 NT_167187.1:7677584:A:G NC_000008.11:19961927:A:G (self)
Help

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

14 citations for rs326
PMID Title Author Year Journal
15980532 SOP3v2: web-based selection of oligonucleotide primer trios for genotyping of human and mouse polymorphisms. Ringquist S et al. 2005 Nucleic acids research
17952847 Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol. Spirin V et al. 2007 American journal of human genetics
19041386 Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review. Boes E et al. 2009 Experimental gerontology
20150529 Associations of lipoprotein lipase gene polymorphisms with longitudinal plasma lipid trends in young adults: The Coronary Artery Risk Development in Young Adults (CARDIA) study. Tang W et al. 2010 Circulation. Cardiovascular genetics
20159871 Association between a literature-based genetic risk score and cardiovascular events in women. Paynter NP et al. 2010 JAMA
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
21149302 Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population. Liu Y et al. 2011 Journal of lipid research
21860704 Implications of discoveries from genome-wide association studies in current cardiovascular practice. Jeemon P et al. 2011 World journal of cardiology
21995669 A genome-wide survey for SNPs altering microRNA seed sites identifies functional candidates in GWAS. Richardson K et al. 2011 BMC genomics
23101478 Single nucleotide polymorphisms (SNPs) involved in insulin resistance, weight regulation, lipid metabolism and inflammation in relation to metabolic syndrome: an epidemiological study. Povel CM et al. 2012 Cardiovascular diabetology
23246289 Gain-of-function lipoprotein lipase variant rs13702 modulates lipid traits through disruption of a microRNA-410 seed site. Richardson K et al. 2013 American journal of human genetics
25626708 Resequencing of LPL in African Blacks and associations with lipoprotein-lipid levels. Pirim D et al. 2015 European journal of human genetics
28349126 Genetics of stroke in a UK African ancestry case-control study: South London Ethnicity and Stroke Study. Traylor M et al. 2017 Neurology. Genetics
29403300 Association between IL-18/18R gene polymorphisms and coronary artery disease: influence of IL-18/18R genetic variants on cytokine expression. Mitrokhin V et al. 2018 Journal of inflammation research
Help

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.

Software version is: 2.0.1.post596+ae089ad