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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.

rs328

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr8:19962213 (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
C>A / C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.087925 (23273/264690, TOPMED)
G=0.092156 (23148/251182, GnomAD_exome)
G=0.089338 (12522/140164, GnomAD) (+ 23 more)
G=0.093501 (11340/121282, ExAC)
G=0.099621 (11450/114936, ALFA)
G=0.07904 (6220/78694, PAGE_STUDY)
G=0.12983 (2176/16760, 8.3KJPN)
G=0.0925 (463/5008, 1000G)
G=0.0670 (300/4480, Estonian)
G=0.1066 (411/3854, ALSPAC)
G=0.1079 (400/3708, TWINSUK)
G=0.1208 (354/2930, KOREAN)
G=0.0917 (104/1134, Daghestan)
G=0.118 (118/998, GoNL)
G=0.075 (59/790, PRJEB37584)
G=0.127 (78/614, Vietnamese)
G=0.085 (51/600, NorthernSweden)
G=0.152 (81/534, MGP)
G=0.098 (32/328, HapMap)
G=0.092 (28/304, FINRISK)
G=0.074 (16/216, Qatari)
G=0.196 (20/102, Ancient Sardinia)
C=0.47 (36/76, SGDP_PRJ)
G=0.10 (4/40, GENOME_DK)
C=0.5 (3/6, Siberian)
G=0.5 (3/6, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
LPL : Stop Gained
Publications
121 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 114936 C=0.900379 G=0.099621
European Sub 97106 C=0.89839 G=0.10161
African Sub 4402 C=0.9282 G=0.0718
African Others Sub 174 C=0.943 G=0.057
African American Sub 4228 C=0.9276 G=0.0724
Asian Sub 3326 C=0.8978 G=0.1022
East Asian Sub 2670 C=0.8820 G=0.1180
Other Asian Sub 656 C=0.962 G=0.038
Latin American 1 Sub 794 C=0.907 G=0.093
Latin American 2 Sub 962 C=0.930 G=0.070
South Asian Sub 274 C=0.898 G=0.102
Other Sub 8072 C=0.9061 G=0.0939


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 C=0.912075 G=0.087925
gnomAD - Exomes Global Study-wide 251182 C=0.907844 G=0.092156
gnomAD - Exomes European Sub 135160 C=0.900703 G=0.099297
gnomAD - Exomes Asian Sub 49000 C=0.89763 G=0.10237
gnomAD - Exomes American Sub 34568 C=0.94472 G=0.05528
gnomAD - Exomes African Sub 16254 C=0.92845 G=0.07155
gnomAD - Exomes Ashkenazi Jewish Sub 10072 C=0.89525 G=0.10475
gnomAD - Exomes Other Sub 6128 C=0.9050 G=0.0950
gnomAD - Genomes Global Study-wide 140164 C=0.910662 G=0.089338
gnomAD - Genomes European Sub 75916 C=0.89989 G=0.10011
gnomAD - Genomes African Sub 42016 C=0.92917 G=0.07083
gnomAD - Genomes American Sub 13636 C=0.91992 G=0.08008
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.8949 G=0.1051
gnomAD - Genomes East Asian Sub 3124 C=0.8947 G=0.1053
gnomAD - Genomes Other Sub 2152 C=0.9182 G=0.0818
ExAC Global Study-wide 121282 C=0.906499 G=0.093501
ExAC Europe Sub 73308 C=0.89981 G=0.10019
ExAC Asian Sub 25146 C=0.89712 G=0.10288
ExAC American Sub 11532 C=0.94693 G=0.05307
ExAC African Sub 10388 C=0.92992 G=0.07008
ExAC Other Sub 908 C=0.925 G=0.075
The PAGE Study Global Study-wide 78694 C=0.92096 G=0.07904
The PAGE Study AfricanAmerican Sub 32512 C=0.93046 G=0.06954
The PAGE Study Mexican Sub 10810 C=0.93340 G=0.06660
The PAGE Study Asian Sub 8316 C=0.8808 G=0.1192
The PAGE Study PuertoRican Sub 7916 C=0.9168 G=0.0832
The PAGE Study NativeHawaiian Sub 4534 C=0.9127 G=0.0873
The PAGE Study Cuban Sub 4230 C=0.8931 G=0.1069
The PAGE Study Dominican Sub 3828 C=0.9274 G=0.0726
The PAGE Study CentralAmerican Sub 2450 C=0.9412 G=0.0588
The PAGE Study SouthAmerican Sub 1982 C=0.9294 G=0.0706
The PAGE Study NativeAmerican Sub 1260 C=0.9278 G=0.0722
The PAGE Study SouthAsian Sub 856 C=0.897 G=0.103
8.3KJPN JAPANESE Study-wide 16760 C=0.87017 G=0.12983
1000Genomes Global Study-wide 5008 C=0.9075 G=0.0925
1000Genomes African Sub 1322 C=0.9387 G=0.0613
1000Genomes East Asian Sub 1008 C=0.8780 G=0.1220
1000Genomes Europe Sub 1006 C=0.8698 G=0.1302
1000Genomes South Asian Sub 978 C=0.914 G=0.086
1000Genomes American Sub 694 C=0.937 G=0.063
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9330 G=0.0670
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8934 G=0.1066
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8921 G=0.1079
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.8792 G=0.1208
Genome-wide autozygosity in Daghestan Global Study-wide 1134 C=0.9083 G=0.0917
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.932 G=0.068
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.889 G=0.111
Genome-wide autozygosity in Daghestan Central Asia Sub 120 C=0.917 G=0.083
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.852 G=0.148
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.84 G=0.16
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.92 G=0.08
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.882 G=0.118
CNV burdens in cranial meningiomas Global Study-wide 790 C=0.925 G=0.075
CNV burdens in cranial meningiomas CRM Sub 790 C=0.925 G=0.075
A Vietnamese Genetic Variation Database Global Study-wide 614 C=0.873 G=0.127
Northern Sweden ACPOP Study-wide 600 C=0.915 G=0.085
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.848 G=0.152
HapMap Global Study-wide 328 C=0.902 G=0.098
HapMap African Sub 120 C=0.967 G=0.033
HapMap American Sub 120 C=0.875 G=0.125
HapMap Asian Sub 88 C=0.85 G=0.15
FINRISK Finnish from FINRISK project Study-wide 304 C=0.908 G=0.092
Qatari Global Study-wide 216 C=0.926 G=0.074
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 102 C=0.804 G=0.196
SGDP_PRJ Global Study-wide 76 C=0.47 G=0.53
The Danish reference pan genome Danish Study-wide 40 C=0.90 G=0.10
Siberian Global Study-wide 6 C=0.5 G=0.5
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.19962213C>A
GRCh38.p13 chr 8 NC_000008.11:g.19962213C>G
GRCh37.p13 chr 8 NC_000008.10:g.19819724C>A
GRCh37.p13 chr 8 NC_000008.10:g.19819724C>G
LPL RefSeqGene (LRG_1298) NG_008855.2:g.65497C>A
LPL RefSeqGene (LRG_1298) NG_008855.2:g.65497C>G
Gene: LPL, lipoprotein lipase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LPL transcript NM_000237.3:c.1421C>A S [TCA] > * [TAA] Coding Sequence Variant
lipoprotein lipase precursor NP_000228.1:p.Ser474Ter S (Ser) > * (Ter) Stop Gained
LPL transcript NM_000237.3:c.1421C>G S [TCA] > * [TGA] Coding Sequence Variant
lipoprotein lipase precursor NP_000228.1:p.Ser474Ter S (Ser) > * (Ter) Stop Gained
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: A (allele ID: 783072 )
ClinVar Accession Disease Names Clinical Significance
RCV000978630.1 not provided Benign
Allele: G (allele ID: 16573 )
ClinVar Accession Disease Names Clinical Significance
RCV000001598.2 LIPOPROTEIN LIPASE POLYMORPHISM Benign
RCV000385586.2 Hyperlipoproteinemia, type I Benign
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 C= A G
GRCh38.p13 chr 8 NC_000008.11:g.19962213= NC_000008.11:g.19962213C>A NC_000008.11:g.19962213C>G
GRCh37.p13 chr 8 NC_000008.10:g.19819724= NC_000008.10:g.19819724C>A NC_000008.10:g.19819724C>G
LPL RefSeqGene (LRG_1298) NG_008855.2:g.65497= NG_008855.2:g.65497C>A NG_008855.2:g.65497C>G
LPL transcript NM_000237.3:c.1421= NM_000237.3:c.1421C>A NM_000237.3:c.1421C>G
LPL transcript NM_000237.2:c.1421= NM_000237.2:c.1421C>A NM_000237.2:c.1421C>G
lipoprotein lipase precursor NP_000228.1:p.Ser474= NP_000228.1:p.Ser474Ter NP_000228.1:p.Ser474Ter
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#.

119 SubSNP, 25 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 DEBNICK ss329 Sep 19, 2000 (36)
2 WIAF-CSNP ss3173350 Aug 15, 2001 (98)
3 YUSUKE ss4921960 Aug 28, 2002 (108)
4 BCM_SSAHASNP ss10467174 Jul 11, 2003 (116)
5 IMCJ-GDT ss16343000 Feb 27, 2004 (120)
6 PERLEGEN ss24648907 Sep 20, 2004 (123)
7 APPLERA_GI ss48420139 Mar 13, 2006 (126)
8 PERLEGEN ss69043156 May 18, 2007 (127)
9 SI_EXO ss71648660 May 18, 2007 (127)
10 AFFY ss74808885 Aug 16, 2007 (128)
11 PAGE_STUDY ss181341878 Jul 04, 2010 (132)
12 PAGE_STUDY ss181834342 Jul 04, 2010 (132)
13 PAGE_STUDY ss181835906 Jul 04, 2010 (132)
14 PAGE_STUDY ss182258758 Jul 04, 2010 (132)
15 BUSHMAN ss198888197 Jul 04, 2010 (132)
16 1000GENOMES ss217321427 Jul 14, 2010 (132)
17 1000GENOMES ss217397633 Jul 14, 2010 (132)
18 1000GENOMES ss217399174 Jul 14, 2010 (132)
19 1000GENOMES ss217407233 Jul 14, 2010 (132)
20 1000GENOMES ss217418296 Jul 14, 2010 (132)
21 1000GENOMES ss217419027 Jul 14, 2010 (132)
22 1000GENOMES ss217422429 Jul 14, 2010 (132)
23 1000GENOMES ss223585670 Jul 14, 2010 (132)
24 1000GENOMES ss234352504 Jul 15, 2010 (132)
25 1000GENOMES ss241227319 Jul 15, 2010 (132)
26 OMICIA ss244238714 May 27, 2010 (132)
27 ILLUMINA ss244294501 Jul 04, 2010 (132)
28 OMIM-CURATED-RECORDS ss252841585 Aug 10, 2010 (132)
29 BL ss254171515 May 09, 2011 (134)
30 GMI ss279724045 May 04, 2012 (137)
31 NHLBI-ESP ss342253806 May 09, 2011 (134)
32 ILLUMINA ss410878568 Sep 17, 2011 (135)
33 ILLUMINA ss484193264 May 04, 2012 (137)
34 ILLUMINA ss485584695 May 04, 2012 (137)
35 1000GENOMES ss490960926 May 04, 2012 (137)
36 EXOME_CHIP ss491410902 May 04, 2012 (137)
37 CLINSEQ_SNP ss491921994 May 04, 2012 (137)
38 ILLUMINA ss536381272 Sep 08, 2015 (146)
39 SSMP ss655035593 Apr 25, 2013 (138)
40 ILLUMINA ss779528090 Aug 21, 2014 (142)
41 ILLUMINA ss780867941 Aug 21, 2014 (142)
42 ILLUMINA ss782542564 Aug 21, 2014 (142)
43 ILLUMINA ss783552875 Aug 21, 2014 (142)
44 ILLUMINA ss834998628 Aug 21, 2014 (142)
45 EVA-GONL ss985272683 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1067495952 Aug 21, 2014 (142)
47 JMKIDD_LAB ss1075340057 Aug 21, 2014 (142)
48 1000GENOMES ss1328915353 Aug 21, 2014 (142)
49 HAMMER_LAB ss1397520212 Sep 08, 2015 (146)
50 EVA_GENOME_DK ss1582593788 Apr 01, 2015 (144)
51 EVA_FINRISK ss1584057350 Apr 01, 2015 (144)
52 EVA_DECODE ss1594862344 Apr 01, 2015 (144)
53 EVA_UK10K_ALSPAC ss1620133815 Apr 01, 2015 (144)
54 EVA_UK10K_TWINSUK ss1663127848 Apr 01, 2015 (144)
55 EVA_EXAC ss1689111743 Apr 01, 2015 (144)
56 EVA_MGP ss1711194717 Apr 01, 2015 (144)
57 ILLUMINA ss1752723251 Sep 08, 2015 (146)
58 ILLUMINA ss1917826331 Feb 12, 2016 (147)
59 WEILL_CORNELL_DGM ss1928562440 Feb 12, 2016 (147)
60 ILLUMINA ss1946231552 Feb 12, 2016 (147)
61 ILLUMINA ss1959093919 Feb 12, 2016 (147)
62 JJLAB ss2024980591 Sep 14, 2016 (149)
63 ILLUMINA ss2094987020 Dec 20, 2016 (150)
64 ILLUMINA ss2095209247 Dec 20, 2016 (150)
65 USC_VALOUEV ss2153202052 Dec 20, 2016 (150)
66 HUMAN_LONGEVITY ss2301288406 Dec 20, 2016 (150)
67 TOPMED ss2470946277 Dec 20, 2016 (150)
68 ILLUMINA ss2634720469 Nov 08, 2017 (151)
69 ILLUMINA ss2634720470 Nov 08, 2017 (151)
70 ILLUMINA ss2634720471 Nov 08, 2017 (151)
71 GRF ss2708962560 Nov 08, 2017 (151)
72 GNOMAD ss2737022600 Nov 08, 2017 (151)
73 GNOMAD ss2748007794 Nov 08, 2017 (151)
74 GNOMAD ss2864093419 Nov 08, 2017 (151)
75 AFFY ss2985433067 Nov 08, 2017 (151)
76 AFFY ss2986076219 Nov 08, 2017 (151)
77 SWEGEN ss3002804512 Nov 08, 2017 (151)
78 ILLUMINA ss3022826115 Nov 08, 2017 (151)
79 BIOINF_KMB_FNS_UNIBA ss3026281130 Nov 08, 2017 (151)
80 CSHL ss3348082059 Nov 08, 2017 (151)
81 TOPMED ss3555884012 Nov 08, 2017 (151)
82 ILLUMINA ss3625947311 Oct 12, 2018 (152)
83 ILLUMINA ss3630013668 Oct 12, 2018 (152)
84 ILLUMINA ss3630013669 Oct 12, 2018 (152)
85 ILLUMINA ss3632621006 Oct 12, 2018 (152)
86 ILLUMINA ss3635162189 Oct 12, 2018 (152)
87 ILLUMINA ss3640869479 Oct 12, 2018 (152)
88 ILLUMINA ss3644964726 Oct 12, 2018 (152)
89 OMUKHERJEE_ADBS ss3646373026 Oct 12, 2018 (152)
90 ILLUMINA ss3653367072 Oct 12, 2018 (152)
91 ILLUMINA ss3653367073 Oct 12, 2018 (152)
92 ILLUMINA ss3654194881 Oct 12, 2018 (152)
93 EGCUT_WGS ss3670484557 Jul 13, 2019 (153)
94 EVA_DECODE ss3721555547 Jul 13, 2019 (153)
95 ILLUMINA ss3726520386 Jul 13, 2019 (153)
96 ACPOP ss3735467091 Jul 13, 2019 (153)
97 ILLUMINA ss3744577761 Jul 13, 2019 (153)
98 ILLUMINA ss3745461972 Jul 13, 2019 (153)
99 EVA ss3767717822 Jul 13, 2019 (153)
100 PAGE_CC ss3771428713 Jul 13, 2019 (153)
101 ILLUMINA ss3772954565 Jul 13, 2019 (153)
102 PACBIO ss3786087390 Jul 13, 2019 (153)
103 PACBIO ss3791353795 Jul 13, 2019 (153)
104 PACBIO ss3796234962 Jul 13, 2019 (153)
105 KHV_HUMAN_GENOMES ss3810881303 Jul 13, 2019 (153)
106 EVA ss3824351444 Apr 26, 2020 (154)
107 EVA ss3825737083 Apr 26, 2020 (154)
108 EVA ss3831054947 Apr 26, 2020 (154)
109 SGDP_PRJ ss3869436814 Apr 26, 2020 (154)
110 KRGDB ss3916862660 Apr 26, 2020 (154)
111 FSA-LAB ss3984393709 Apr 27, 2021 (155)
112 FSA-LAB ss3984393710 Apr 27, 2021 (155)
113 EVA ss3984602267 Apr 27, 2021 (155)
114 EVA ss3985347121 Apr 27, 2021 (155)
115 EVA ss3986043083 Apr 27, 2021 (155)
116 EVA ss3986415493 Apr 27, 2021 (155)
117 TOPMED ss4778094745 Apr 27, 2021 (155)
118 TOMMO_GENOMICS ss5187654658 Apr 27, 2021 (155)
119 EVA ss5237041074 Apr 27, 2021 (155)
120 1000Genomes NC_000008.10 - 19819724 Oct 12, 2018 (152)
121 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 19819724 Oct 12, 2018 (152)
122 Genome-wide autozygosity in Daghestan NC_000008.9 - 19864004 Apr 26, 2020 (154)
123 Genetic variation in the Estonian population NC_000008.10 - 19819724 Oct 12, 2018 (152)
124 ExAC NC_000008.10 - 19819724 Oct 12, 2018 (152)
125 FINRISK NC_000008.10 - 19819724 Apr 26, 2020 (154)
126 The Danish reference pan genome NC_000008.10 - 19819724 Apr 26, 2020 (154)
127 gnomAD - Genomes NC_000008.11 - 19962213 Apr 27, 2021 (155)
128 gnomAD - Exomes NC_000008.10 - 19819724 Jul 13, 2019 (153)
129 Genome of the Netherlands Release 5 NC_000008.10 - 19819724 Apr 26, 2020 (154)
130 HapMap NC_000008.11 - 19962213 Apr 26, 2020 (154)
131 KOREAN population from KRGDB NC_000008.10 - 19819724 Apr 26, 2020 (154)
132 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 19819724 Apr 26, 2020 (154)
133 Northern Sweden NC_000008.10 - 19819724 Jul 13, 2019 (153)
134 The PAGE Study NC_000008.11 - 19962213 Jul 13, 2019 (153)
135 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 19819724 Apr 27, 2021 (155)
136 CNV burdens in cranial meningiomas NC_000008.10 - 19819724 Apr 27, 2021 (155)
137 Qatari NC_000008.10 - 19819724 Apr 26, 2020 (154)
138 SGDP_PRJ NC_000008.10 - 19819724 Apr 26, 2020 (154)
139 Siberian NC_000008.10 - 19819724 Apr 26, 2020 (154)
140 8.3KJPN NC_000008.10 - 19819724 Apr 27, 2021 (155)
141 TopMed NC_000008.11 - 19962213 Apr 27, 2021 (155)
142 UK 10K study - Twins NC_000008.10 - 19819724 Oct 12, 2018 (152)
143 A Vietnamese Genetic Variation Database NC_000008.10 - 19819724 Jul 13, 2019 (153)
144 ALFA NC_000008.11 - 19962213 Apr 27, 2021 (155)
145 ClinVar RCV000001598.2 Oct 12, 2018 (152)
146 ClinVar RCV000385586.2 Apr 27, 2021 (155)
147 ClinVar RCV000978630.1 Apr 26, 2020 (154)
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)
rs3735962 Oct 08, 2002 (108)
rs17482566 Oct 08, 2004 (123)
rs52834251 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
RCV000978630.1 NC_000008.11:19962212:C:A NC_000008.11:19962212:C:A (self)
494106, ss198888197, ss217321427, ss217397633, ss217399174, ss217407233, ss217418296, ss217419027, ss217422429, ss244294501, ss254171515, ss279724045, ss410878568, ss485584695, ss491921994, ss1397520212, ss1594862344, ss2094987020 NC_000008.9:19864003:C:G NC_000008.11:19962212:C:G (self)
41010104, 22797219, 16222805, 9205345, 53811, 8758726, 6191011, 10186996, 24040054, 310477, 8751956, 573048, 151703, 10604370, 21453794, 5718406, 45623965, 22797219, 5083504, ss223585670, ss234352504, ss241227319, ss342253806, ss484193264, ss490960926, ss491410902, ss536381272, ss655035593, ss779528090, ss780867941, ss782542564, ss783552875, ss834998628, ss985272683, ss1067495952, ss1075340057, ss1328915353, ss1582593788, ss1584057350, ss1620133815, ss1663127848, ss1689111743, ss1711194717, ss1752723251, ss1917826331, ss1928562440, ss1946231552, ss1959093919, ss2024980591, ss2095209247, ss2153202052, ss2470946277, ss2634720469, ss2634720470, ss2634720471, ss2708962560, ss2737022600, ss2748007794, ss2864093419, ss2985433067, ss2986076219, ss3002804512, ss3022826115, ss3348082059, ss3625947311, ss3630013668, ss3630013669, ss3632621006, ss3635162189, ss3640869479, ss3644964726, ss3646373026, ss3653367072, ss3653367073, ss3654194881, ss3670484557, ss3735467091, ss3744577761, ss3745461972, ss3767717822, ss3772954565, ss3786087390, ss3791353795, ss3796234962, ss3824351444, ss3825737083, ss3831054947, ss3869436814, ss3916862660, ss3984393709, ss3984393710, ss3984602267, ss3985347121, ss3986043083, ss3986415493, ss5187654658 NC_000008.10:19819723:C:G NC_000008.11:19962212:C:G (self)
RCV000001598.2, RCV000385586.2, 289196351, 3581010, 650182, 384683375, 615472305, 12326390191, ss244238714, ss252841585, ss2301288406, ss3026281130, ss3555884012, ss3721555547, ss3726520386, ss3771428713, ss3810881303, ss4778094745, ss5237041074 NC_000008.11:19962212:C:G NC_000008.11:19962212:C:G (self)
ss10467174 NT_030737.7:3540947:C:G NC_000008.11:19962212:C:G (self)
ss329, ss3173350, ss4921960, ss16343000, ss24648907, ss48420139, ss69043156, ss71648660, ss74808885, ss181341878, ss181834342, ss181835906, ss182258758 NT_167187.1:7677869:C:G NC_000008.11:19962212:C:G (self)
Help

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

121 citations for rs328
PMID Title Author Year Journal
1731801 A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia. Kobayashi J et al. 1992 Biochemical and biophysical research communications
1907278 Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family. Faustinella F et al. 1991 The Journal of biological chemistry
2216713 Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. Hata A et al. 1990 Nucleic acids research
16642433 Polymorphism in maternal LRP8 gene is associated with fetal growth. Wang L et al. 2006 American journal of human genetics
16700901 Physiogenomic analysis of weight loss induced by dietary carbohydrate restriction. Ruaño G et al. 2006 Nutrition & metabolism
17157861 Associations between HDL-cholesterol and polymorphisms in hepatic lipase and lipoprotein lipase genes are modified by dietary fat intake in African American and White adults. Nettleton JA et al. 2007 Atherosclerosis
17291198 The lipoprotein lipase gene serine 447 stop variant influences hypertension-induced left ventricular hypertrophy and risk of coronary heart disease. Talmud PJ et al. 2007 Clinical science (London, England
17903299 A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. Kathiresan S et al. 2007 BMC medical genetics
18193044 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Kathiresan S et al. 2008 Nature genetics
18275964 Low-density lipoprotein and high-density lipoprotein cholesterol levels in relation to genetic polymorphisms and menopausal status: the Atherosclerosis Risk in Communities (ARIC) Study. Chamberlain AM et al. 2008 Atherosclerosis
18280754 Cholesterol-related genetic risk scores are associated with hypometabolism in Alzheimer's-affected brain regions. Reiman EM et al. 2008 NeuroImage
18513389 New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background. Penco S et al. 2008 BMC bioinformatics
18596051 Polygenic determinants of severe hypertriglyceridemia. Wang J et al. 2008 Human molecular genetics
18660489 Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. Lu Y et al. 2008 Journal of lipid research
18678614 Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Orho-Melander M et al. 2008 Diabetes
18922999 Seven lipoprotein lipase gene polymorphisms, lipid fractions, and coronary disease: a HuGE association review and meta-analysis. Sagoo GS et al. 2008 American journal of epidemiology
19018513 The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits. Webster RJ et al. 2009 Diabetologia
19041386 Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review. Boes E et al. 2009 Experimental gerontology
19060910 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Sabatti C et al. 2009 Nature genetics
19131662 A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients. Wang X et al. 2009 Stroke
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
19185284 Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. Ferrucci L et al. 2009 American journal of human genetics
19197348 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. Lowe JK et al. 2009 PLoS genetics
19200524 A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs. Yngvadottir B et al. 2009 American journal of human genetics
19263529 Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach. Zee RY et al. 2009 Clinica chimica acta; international journal of clinical chemistry
19299407 Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample. Lanktree MB et al. 2009 Journal of lipid research
19336475 Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. Drenos F et al. 2009 Human molecular genetics
19379518 Development of a fingerprinting panel using medically relevant polymorphisms. Cross DS et al. 2009 BMC medical genomics
19408013 Strategies and issues in the detection of pathway enrichment in genome-wide association studies. Hong MG et al. 2009 Human genetics
19435741 Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people. Murray A et al. 2009 European heart journal
19474294 Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Hindorff LA et al. 2009 Proceedings of the National Academy of Sciences of the United States of America
19489872 Association of polymorphisms in genes involved in lipoprotein metabolism with plasma concentrations of remnant lipoproteins and HDL subpopulations before and after hormone therapy in postmenopausal women. Lamon-Fava S et al. 2010 Clinical endocrinology
19501493 A composite scoring of genotypes discriminates coronary heart disease risk beyond conventional risk factors in the Boston Puerto Rican Health Study. Junyent M et al. 2010 Nutrition, metabolism, and cardiovascular diseases
19557453 beta-Carotene conversion products and their effects on adipose tissue. Tourniaire F et al. 2009 Genes & nutrition
19602472 Lipid and endothelium-related genes, ambient particulate matter, and heart rate variability--the VA Normative Aging Study. Ren C et al. 2010 Journal of epidemiology and community health
19729614 Ion mobility analysis of lipoprotein subfractions identifies three independent axes of cardiovascular risk. Musunuru K et al. 2009 Arteriosclerosis, thrombosis, and vascular biology
19736300 Genetic basis of inter-individual variability in the effects of exercise on the alleviation of lifestyle-related diseases. Mori M et al. 2009 The Journal of physiology
19773416 A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women. Hamrefors V et al. 2010 Journal of lipid research
19802338 Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Chasman DI et al. 2008 Circulation. Cardiovascular genetics
19878569 Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis. Chen SN et al. 2009 BMC medical genetics
19884647 Air pollution, obesity, genes and cellular adhesion molecules. Madrigano J et al. 2010 Occupational and environmental medicine
19951432 Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease. Ronald J et al. 2009 Lipids in health and disease
20018036 Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes. Hamid JS et al. 2009 BMC proceedings
20018039 Associating multiple longitudinal traits with high-dimensional single-nucleotide polymorphism data: application to the Framingham Heart Study. Waaijenborg S et al. 2009 BMC proceedings
20031591 Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III. Keebler ME et al. 2009 Circulation. Cardiovascular genetics
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
20400780 Candidate gene association resource (CARe): design, methods, and proof of concept. Musunuru K et al. 2010 Circulation. Cardiovascular genetics
20410100 Genetic variation in APOJ, LPL, and TNFRSF10B affects plasma fatty acid distribution in Alaskan Eskimos. Voruganti VS et al. 2010 The American journal of clinical nutrition
20421590 Genetic causes of high and low serum HDL-cholesterol. Weissglas-Volkov D et al. 2010 Journal of lipid research
20429872 Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study. Ariza MJ et al. 2010 BMC medical genetics
20565774 Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. Cross DS et al. 2010 BMC 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
21282362 Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance. De Silva NM et al. 2011 Diabetes
21288825 Association of pharmacogenetic markers with premature discontinuation of first-line anti-HIV therapy: an observational cohort study. Lubomirov R et al. 2011 The Journal of infectious diseases
21316679 Associations between common genetic polymorphisms in the liver X receptor alpha and its target genes with the serum HDL-cholesterol concentration in adolescents of the HELENA Study. Legry V et al. 2011 Atherosclerosis
21407270 Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. Janssens AC et al. 2011 European journal of human genetics
21424820 Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. Janssens AC et al. 2011 European journal of epidemiology
21466885 Evaluation of the gene-age interactions in HDL cholesterol, LDL cholesterol, and triglyceride levels: the impact of the SORT1 polymorphism on LDL cholesterol levels is age dependent. Shirts BH et al. 2011 Atherosclerosis
21738485 Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study. Dumitrescu L et al. 2011 PLoS genetics
21767357 Genetic variants in lipid metabolism are independently associated with multiple features of the metabolic syndrome. Povel CM et al. 2011 Lipids in health and disease
21777205 Evidence for age as a modifier of genetic associations for lipid levels. Dumitrescu L et al. 2011 Annals of human genetics
21840003 Genetic variations at the lipoprotein lipase gene influence plasma lipid concentrations and interact with plasma n-6 polyunsaturated fatty acids to modulate lipid metabolism. Garcia-Rios A et al. 2011 Atherosclerosis
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
22024213 A novel gene-environment interaction involved in endometriosis. McCarty CA et al. 2012 International journal of gynaecology and obstetrics
22171074 A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population. Tan A et al. 2012 Human molecular genetics
22239554 Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. Surendran RP et al. 2012 Journal of internal medicine
22318170 A Hybrid Bayesian Network/Structural Equation (BN/SEM) Modeling Approach for Detecting Physiological Networks for Obesity-related Genetic Variants. Duarte CW et al. 2011 Proceedings. IEEE International Conference on Bioinformatics and Biomedicine
22328972 A Database of Gene-Environment Interactions Pertaining to Blood Lipid Traits, Cardiovascular Disease and Type 2 Diabetes. Lee YC et al. 2011 Journal of data mining in genomics & proteomics
22425169 Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol. Shirts BH et al. 2012 Atherosclerosis
22879966 Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study. Verschuren JJ et al. 2012 PloS one
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
23236364 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. Elbers CC et al. 2012 PloS one
23497168 Omega-3 fatty acids, polymorphisms and lipid related cardiovascular disease risk factors in the Inuit population. Rudkowska I et al. 2013 Nutrition & metabolism
24319689 The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism. de Almeida ER et al. 2013 BioMed research international
24886709 Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. Ko A et al. 2014 Nature communications
24959828 Genetic association study with metabolic syndrome and metabolic-related traits in a cross-sectional sample and a 10-year longitudinal sample of chinese elderly population. Yang J et al. 2014 PloS one
25176936 Common genetic variants contribute to primary hypertriglyceridemia without differences between familial combined hyperlipidemia and isolated hypertriglyceridemia. De Castro-Orós I et al. 2014 Circulation. Cardiovascular genetics
25205864 Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study. Restrepo NA et al. 2014 Investigative ophthalmology & visual science
25430627 A genetic risk tool for obesity predisposition assessment and personalized nutrition implementation based on macronutrient intake. Goni L et al. 2015 Genes & nutrition
25500319 Association between polymorphisms in genes involved in lipid metabolism and immunological status in chronically HIV-infected patients. Echeverria P et al. 2015 Antiviral research
25579610 The lipoprotein lipase S447X and cholesteryl ester transfer protein rs5882 polymorphisms and their relationship with lipid profile in human serum of obese individuals. Emamian M et al. 2015 Gene
25587205 Association of polymorphisms of genes involved in lipid metabolism with blood pressure and lipid values in mexican hypertensive individuals. Ríos-González BE et al. 2014 Disease markers
25626708 Resequencing of LPL in African Blacks and associations with lipoprotein-lipid levels. Pirim D et al. 2015 European journal of human genetics
25671407 A systems genetics approach to dyslipidemia in children and adolescents. White MJ et al. 2015 Omics
25788903 Network-based analysis of the sphingolipid metabolism in hypertension. Fenger M et al. 2015 Frontiers in genetics
25864161 Ethnic differences in the association between lipid metabolism genes and lipid levels in black and white South African women. Ellman N et al. 2015 Atherosclerosis
26101956 Polymorphisms in LPL, CETP, and HL protect HIV-infected patients from atherogenic dyslipidemia in an allele-dose-dependent manner. Guardiola M et al. 2015 AIDS research and human retroviruses
26370976 Polymorphisms in the LPL and CETP Genes and Haplotype in the ESR1 Gene Are Associated with Metabolic Syndrome in Women from Southwestern Mexico. Cahua-Pablo JÁ et al. 2015 International journal of molecular sciences
26446360 Mendelian randomization studies of biomarkers and type 2 diabetes. Abbasi A et al. 2015 Endocrine connections
26483159 RETRACTED: Association between peroxisome proliferator-activated receptor, UCP3 and lipoprotein lipase gene polymorphisms and obesity in Chinese adolescents. Zou Z et al. 2017 Obesity research & clinical practice
26786614 Interaction of lipoprotein lipase polymorphisms with body mass index and birth weight to modulate lipid profiles in children and adolescents: the CASPIAN-III Study. Askari G et al. 2016 Sao Paulo medical journal = Revista paulista de medicina
26791477 The effects of genes implicated in cardiovascular disease on blood pressure response to treatment among treatment-naive hypertensive African Americans in the GenHAT study. Do AN et al. 2016 Journal of human hypertension
26820803 Multiple microRNA regulation of lipoprotein lipase gene abolished by 3'UTR polymorphisms in a triglyceride-lowering haplotype harboring p.Ser474Ter. Caussy C et al. 2016 Atherosclerosis
26971241 Influence of Genetic Risk Factors on Coronary Heart Disease Occurrence in Afro-Caribbeans. Larifla L et al. 2016 The Canadian journal of cardiology
26975783 Meta-analyses of four polymorphisms of lipoprotein lipase associated with the risk of Alzheimer's disease. Ren L et al. 2016 Neuroscience letters
26999119 Impact of Lipoprotein Lipase Gene Polymorphism, S447X, on Postprandial Triacylglycerol and Glucose Response to Sequential Meal Ingestion. Shatwan IM et al. 2016 International journal of molecular sciences
27277665 Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population. Zholdybayeva EV et al. 2016 Human genomics
27386434 Zinc Finger 259 Gene Polymorphism rs964184 is Associated with Serum Triglyceride Levels and Metabolic Syndrome. Mirhafez SR et al. 2016 International journal of molecular and cellular medicine
27535653 eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants. Verma A et al. 2016 BMC medical genomics
27716211 A 19-SNP coronary heart disease gene score profile in subjects with type 2 diabetes: the coronary heart disease risk in type 2 diabetes (CoRDia study) study baseline characteristics. Beaney KE et al. 2016 Cardiovascular diabetology
28115978 High fat diet modifies the association of lipoprotein lipase gene polymorphism with high density lipoprotein cholesterol in an Asian Indian population. Ayyappa KA et al. 2017 Nutrition & metabolism
28143480 Common variants in the genes of triglyceride and HDL-C metabolism lack association with coronary artery disease in the Pakistani subjects. Shahid SU et al. 2017 Lipids in health and disease
28167353 Genetic risk analysis of coronary artery disease in Pakistani subjects using a genetic risk score of 21 variants. Shahid SU et al. 2017 Atherosclerosis
28293042 Polymorphisms of the lipoprotein lipase gene as genetic markers for stroke in colombian population: a case control study. Velásquez Pereira LC et al. 2016 Colombia medica (Cali, Colombia)
28577571 Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review. Paththinige CS et al. 2017 Lipids in health and disease
28623937 The association of lipid metabolism relative gene polymorphisms and ischemic stroke in Han and Uighur population of Xinjiang. Yue YH et al. 2017 Lipids in health and disease
28639428 Relationship between pancreatic intraepithelial neoplasias, pancreatic ductal adenocarcinomas, and single nucleotide polymorphisms in autopsied elderly patients. Matsuda Y et al. 2018 Genes, chromosomes & cancer
28685248 Genetic risk factors for myocardial infarction more clearly manifest for early age of first onset. Titov BV et al. 2017 Molecular biology reports
28705542 Effect of Coronary Artery Disease risk SNPs on serum cytokine levels and cytokine imbalance in Premature Coronary Artery Disease. Ansari WM et al. 2019 Cytokine
29303622 Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers. Kamble PG et al. 2017 Upsala journal of medical sciences
30026888 Prediction of dyslipidemia using gene mutations, family history of diseases and anthropometric indicators in children and adolescents: The CASPIAN-III study. Marateb HR et al. 2018 Computational and structural biotechnology journal
30126146 Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size. Barbitoff YA et al. 2018 Genes
30140409 Lipoprotein lipase gene polymorphisms as risk factors for stroke: a computational and meta-analysis. Nejati M et al. 2018 Iranian journal of basic medical sciences
30944368 Genetic association of LPL rs1121923 and rs258 with plasma TG and VLDL levels. Al-Bustan SA et al. 2019 Scientific reports
31034941 Gender-related relation between metabolic syndrome and S447X and HindIII polymorphisms of lipoprotein lipase gene in northern Iran. Alinaghian N et al. 2019 Gene
31224373
31369181 Cholesterol and neurodegeneration: longitudinal changes in serum cholesterol biomarkers are associated with new lesions and gray matter atrophy in multiple sclerosis over 5 years of follow-up. Murali N et al. 2020 European journal of neurology
31585025 The influence of gene polymorphisms on postprandial triglyceride response after oral fat tolerance test meal in patients with diabetes mellitus. Gavra P et al. 2019 International journal of clinical practice
32333632 Association between lipoprotein lipase gene polymorphisms and cardiovascular disease risk factors in European adolescents: The Healthy Lifestyle in Europe by Nutrition in Adolescence study. Salazar-Tortosa DF et al. 2020 Pediatric diabetes
33526736 LPL AND ADRB2 GENE POLYMORPHISMS: RELATIONSHIP WITH LIPIDS AND OBESITY IN KAZAKH ADOLESCENTS. Adiyeva M et al. 2020 Georgian medical news
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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