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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.

rs248

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:19953315 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.053886 (14263/264690, TOPMED)
A=0.049866 (12534/251356, GnomAD_exome)
A=0.058426 (8192/140212, GnomAD) (+ 18 more)
A=0.051312 (6226/121336, ExAC)
A=0.07059 (5981/84726, ALFA)
A=0.06543 (851/13006, GO-ESP)
A=0.0383 (245/6404, 1000G_30x)
A=0.0387 (194/5008, 1000G)
A=0.1214 (544/4480, Estonian)
A=0.0688 (265/3854, ALSPAC)
A=0.0728 (270/3708, TWINSUK)
A=0.068 (68/998, GoNL)
A=0.082 (49/600, NorthernSweden)
A=0.049 (26/534, MGP)
A=0.030 (10/328, HapMap)
A=0.066 (20/304, FINRISK)
A=0.046 (10/216, Qatari)
A=0.05 (2/40, GENOME_DK)
G=0.44 (8/18, SGDP_PRJ)
G=0.5 (2/4, Siberian)
A=0.5 (2/4, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
LPL : Synonymous Variant
Publications
5 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 100830 G=0.931251 A=0.068749 0.867956 0.005455 0.126589 4
European Sub 75546 G=0.92693 A=0.07307 0.859953 0.006089 0.133958 3
African Sub 10588 G=0.94720 A=0.05280 0.897431 0.003022 0.099547 0
African Others Sub 382 G=0.948 A=0.052 0.900524 0.005236 0.094241 0
African American Sub 10206 G=0.94719 A=0.05281 0.897315 0.002939 0.099745 0
Asian Sub 508 G=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 410 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Other Asian Sub 98 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 890 G=0.951 A=0.049 0.905618 0.004494 0.089888 1
Latin American 2 Sub 942 G=0.962 A=0.038 0.923567 0.0 0.076433 0
South Asian Sub 178 G=0.949 A=0.051 0.910112 0.011236 0.078652 2
Other Sub 12178 G=0.93726 A=0.06274 0.878798 0.00427 0.116932 0


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 G=0.946114 A=0.053886
gnomAD - Exomes Global Study-wide 251356 G=0.950134 A=0.049866
gnomAD - Exomes European Sub 135294 G=0.932015 A=0.067985
gnomAD - Exomes Asian Sub 49010 G=0.98027 A=0.01973
gnomAD - Exomes American Sub 34588 G=0.97626 A=0.02374
gnomAD - Exomes African Sub 16256 G=0.94913 A=0.05087
gnomAD - Exomes Ashkenazi Jewish Sub 10076 G=0.95981 A=0.04019
gnomAD - Exomes Other Sub 6132 G=0.9485 A=0.0515
gnomAD - Genomes Global Study-wide 140212 G=0.941574 A=0.058426
gnomAD - Genomes European Sub 75918 G=0.92829 A=0.07171
gnomAD - Genomes African Sub 42034 G=0.95037 A=0.04963
gnomAD - Genomes American Sub 13654 G=0.96763 A=0.03237
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9660 A=0.0340
gnomAD - Genomes East Asian Sub 3130 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.9503 A=0.0497
ExAC Global Study-wide 121336 G=0.948688 A=0.051312
ExAC Europe Sub 73326 G=0.93319 A=0.06681
ExAC Asian Sub 25156 G=0.98004 A=0.01996
ExAC American Sub 11550 G=0.97628 A=0.02372
ExAC African Sub 10398 G=0.95086 A=0.04914
ExAC Other Sub 906 G=0.956 A=0.044
Allele Frequency Aggregator Total Global 84726 G=0.92941 A=0.07059
Allele Frequency Aggregator European Sub 65660 G=0.92563 A=0.07437
Allele Frequency Aggregator Other Sub 10760 G=0.93578 A=0.06422
Allele Frequency Aggregator African Sub 5788 G=0.9451 A=0.0549
Allele Frequency Aggregator Latin American 2 Sub 942 G=0.962 A=0.038
Allele Frequency Aggregator Latin American 1 Sub 890 G=0.951 A=0.049
Allele Frequency Aggregator Asian Sub 508 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 178 G=0.949 A=0.051
GO Exome Sequencing Project Global Study-wide 13006 G=0.93457 A=0.06543
GO Exome Sequencing Project European American Sub 8600 G=0.9295 A=0.0705
GO Exome Sequencing Project African American Sub 4406 G=0.9444 A=0.0556
1000Genomes_30x Global Study-wide 6404 G=0.9617 A=0.0383
1000Genomes_30x African Sub 1786 G=0.9524 A=0.0476
1000Genomes_30x Europe Sub 1266 G=0.9297 A=0.0703
1000Genomes_30x South Asian Sub 1202 G=0.9725 A=0.0275
1000Genomes_30x East Asian Sub 1170 G=0.9991 A=0.0009
1000Genomes_30x American Sub 980 G=0.962 A=0.038
1000Genomes Global Study-wide 5008 G=0.9613 A=0.0387
1000Genomes African Sub 1322 G=0.9478 A=0.0522
1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010
1000Genomes Europe Sub 1006 G=0.9334 A=0.0666
1000Genomes South Asian Sub 978 G=0.970 A=0.030
1000Genomes American Sub 694 G=0.960 A=0.040
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8786 A=0.1214
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9312 A=0.0688
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9272 A=0.0728
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.932 A=0.068
Northern Sweden ACPOP Study-wide 600 G=0.918 A=0.082
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.951 A=0.049
HapMap Global Study-wide 328 G=0.970 A=0.030
HapMap African Sub 120 G=0.975 A=0.025
HapMap American Sub 120 G=0.942 A=0.058
HapMap Asian Sub 88 G=1.00 A=0.00
FINRISK Finnish from FINRISK project Study-wide 304 G=0.934 A=0.066
Qatari Global Study-wide 216 G=0.954 A=0.046
The Danish reference pan genome Danish Study-wide 40 G=0.95 A=0.05
SGDP_PRJ Global Study-wide 18 G=0.44 A=0.56
Siberian Global Study-wide 4 G=0.5 A=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.p14 chr 8 NC_000008.11:g.19953315G>A
GRCh37.p13 chr 8 NC_000008.10:g.19810826G>A
LPL RefSeqGene (LRG_1298) NG_008855.2:g.56599G>A
Gene: LPL, lipoprotein lipase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LPL transcript NM_000237.3:c.435G>A E [GAG] > E [GAA] Coding Sequence Variant
lipoprotein lipase precursor NP_000228.1:p.Glu145= E (Glu) > E (Glu) Synonymous 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: A (allele ID: 313668 )
ClinVar Accession Disease Names Clinical Significance
RCV000302825.4 Hyperlipoproteinemia, type I Benign
RCV000587704.5 not provided 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 G= A
GRCh38.p14 chr 8 NC_000008.11:g.19953315= NC_000008.11:g.19953315G>A
GRCh37.p13 chr 8 NC_000008.10:g.19810826= NC_000008.10:g.19810826G>A
LPL RefSeqGene (LRG_1298) NG_008855.2:g.56599= NG_008855.2:g.56599G>A
LPL transcript NM_000237.3:c.435= NM_000237.3:c.435G>A
LPL transcript NM_000237.2:c.435= NM_000237.2:c.435G>A
lipoprotein lipase precursor NP_000228.1:p.Glu145= NP_000228.1:p.Glu145=
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#.

85 SubSNP, 20 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 DEBNICK ss248 Sep 19, 2000 (36)
2 CSHL-HAPMAP ss19754678 Feb 27, 2004 (120)
3 PERLEGEN ss24421378 Sep 20, 2004 (123)
4 ILLUMINA ss65726953 Oct 13, 2006 (127)
5 ILLUMINA ss66743579 Nov 29, 2006 (127)
6 ILLUMINA ss67256904 Nov 29, 2006 (127)
7 ILLUMINA ss67655342 Nov 29, 2006 (127)
8 PERLEGEN ss69043144 May 16, 2007 (127)
9 SI_EXO ss71644841 May 16, 2007 (127)
10 KRIBB_YJKIM ss83344066 Dec 15, 2007 (130)
11 CORNELL ss86240924 Mar 23, 2008 (129)
12 ILLUMINA ss160551570 Dec 01, 2009 (131)
13 ENSEMBL ss161627724 Dec 01, 2009 (131)
14 1000GENOMES ss217321416 Jul 14, 2010 (132)
15 1000GENOMES ss217418277 Jul 14, 2010 (132)
16 1000GENOMES ss217418998 Jul 14, 2010 (132)
17 1000GENOMES ss217422389 Jul 14, 2010 (132)
18 1000GENOMES ss223585614 Jul 14, 2010 (132)
19 1000GENOMES ss234352461 Jul 15, 2010 (132)
20 NHLBI-ESP ss342253776 May 09, 2011 (134)
21 ILLUMINA ss410878519 Sep 17, 2011 (135)
22 ILLUMINA ss479396842 May 04, 2012 (137)
23 ILLUMINA ss481420559 Sep 08, 2015 (146)
24 ILLUMINA ss485584672 May 04, 2012 (137)
25 1000GENOMES ss490960912 May 04, 2012 (137)
26 CLINSEQ_SNP ss491921978 May 04, 2012 (137)
27 ILLUMINA ss532953189 Sep 08, 2015 (146)
28 TISHKOFF ss560600095 Apr 25, 2013 (138)
29 SSMP ss655035530 Apr 25, 2013 (138)
30 ILLUMINA ss779578989 Sep 08, 2015 (146)
31 ILLUMINA ss780971180 Sep 08, 2015 (146)
32 ILLUMINA ss835050508 Sep 08, 2015 (146)
33 EVA-GONL ss985272593 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1067495942 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1075339985 Aug 21, 2014 (142)
36 1000GENOMES ss1328915045 Aug 21, 2014 (142)
37 EVA_GENOME_DK ss1582593742 Apr 01, 2015 (144)
38 EVA_FINRISK ss1584057345 Apr 01, 2015 (144)
39 EVA_DECODE ss1594862254 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1620133657 Apr 01, 2015 (144)
41 EVA_UK10K_TWINSUK ss1663127690 Apr 01, 2015 (144)
42 EVA_EXAC ss1689111439 Apr 01, 2015 (144)
43 EVA_MGP ss1711194693 Apr 01, 2015 (144)
44 WEILL_CORNELL_DGM ss1928562348 Feb 12, 2016 (147)
45 JJLAB ss2024980535 Sep 14, 2016 (149)
46 USC_VALOUEV ss2153202000 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2301287756 Dec 20, 2016 (150)
48 ILLUMINA ss2634720436 Nov 08, 2017 (151)
49 GNOMAD ss2737022196 Nov 08, 2017 (151)
50 GNOMAD ss2748007671 Nov 08, 2017 (151)
51 GNOMAD ss2864092627 Nov 08, 2017 (151)
52 AFFY ss2986076158 Nov 08, 2017 (151)
53 SWEGEN ss3002804403 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3026281091 Nov 08, 2017 (151)
55 CSHL ss3348082014 Nov 08, 2017 (151)
56 ILLUMINA ss3630013626 Oct 12, 2018 (152)
57 ILLUMINA ss3632620987 Oct 12, 2018 (152)
58 ILLUMINA ss3636899251 Oct 12, 2018 (152)
59 ILLUMINA ss3639376744 Oct 12, 2018 (152)
60 ILLUMINA ss3639717191 Oct 12, 2018 (152)
61 ILLUMINA ss3642618962 Oct 12, 2018 (152)
62 EGCUT_WGS ss3670484431 Jul 13, 2019 (153)
63 EVA_DECODE ss3721555409 Jul 13, 2019 (153)
64 ACPOP ss3735467016 Jul 13, 2019 (153)
65 EVA ss3767717729 Jul 13, 2019 (153)
66 KHV_HUMAN_GENOMES ss3810881189 Jul 13, 2019 (153)
67 EVA ss3824351378 Apr 26, 2020 (154)
68 EVA ss3825737069 Apr 26, 2020 (154)
69 EVA ss3831054887 Apr 26, 2020 (154)
70 SGDP_PRJ ss3869436677 Apr 26, 2020 (154)
71 FSA-LAB ss3984393681 Apr 27, 2021 (155)
72 FSA-LAB ss3984393682 Apr 27, 2021 (155)
73 EVA ss3986415460 Apr 27, 2021 (155)
74 TOPMED ss4778092291 Apr 27, 2021 (155)
75 EVA ss5237651000 Oct 14, 2022 (156)
76 1000G_HIGH_COVERAGE ss5276330103 Oct 14, 2022 (156)
77 EVA ss5379642032 Oct 14, 2022 (156)
78 HUGCELL_USP ss5472980729 Oct 14, 2022 (156)
79 1000G_HIGH_COVERAGE ss5566253921 Oct 14, 2022 (156)
80 EVA ss5624176076 Oct 14, 2022 (156)
81 SANFORD_IMAGENETICS ss5644923803 Oct 14, 2022 (156)
82 EVA ss5830224440 Oct 14, 2022 (156)
83 EVA ss5848702257 Oct 14, 2022 (156)
84 EVA ss5888021414 Oct 14, 2022 (156)
85 EVA ss5974104286 Oct 14, 2022 (156)
86 1000Genomes NC_000008.10 - 19810826 Oct 12, 2018 (152)
87 1000Genomes_30x NC_000008.11 - 19953315 Oct 14, 2022 (156)
88 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 19810826 Oct 12, 2018 (152)
89 Genetic variation in the Estonian population NC_000008.10 - 19810826 Oct 12, 2018 (152)
90 ExAC NC_000008.10 - 19810826 Oct 12, 2018 (152)
91 FINRISK NC_000008.10 - 19810826 Apr 26, 2020 (154)
92 The Danish reference pan genome NC_000008.10 - 19810826 Apr 26, 2020 (154)
93 gnomAD - Genomes NC_000008.11 - 19953315 Apr 27, 2021 (155)
94 gnomAD - Exomes NC_000008.10 - 19810826 Jul 13, 2019 (153)
95 GO Exome Sequencing Project NC_000008.10 - 19810826 Oct 12, 2018 (152)
96 Genome of the Netherlands Release 5 NC_000008.10 - 19810826 Apr 26, 2020 (154)
97 HapMap NC_000008.11 - 19953315 Apr 26, 2020 (154)
98 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 19810826 Apr 26, 2020 (154)
99 Northern Sweden NC_000008.10 - 19810826 Jul 13, 2019 (153)
100 Qatari NC_000008.10 - 19810826 Apr 26, 2020 (154)
101 SGDP_PRJ NC_000008.10 - 19810826 Apr 26, 2020 (154)
102 Siberian NC_000008.10 - 19810826 Apr 26, 2020 (154)
103 TopMed NC_000008.11 - 19953315 Apr 27, 2021 (155)
104 UK 10K study - Twins NC_000008.10 - 19810826 Oct 12, 2018 (152)
105 ALFA NC_000008.11 - 19953315 Apr 27, 2021 (155)
106 ClinVar RCV000302825.4 Oct 14, 2022 (156)
107 ClinVar RCV000587704.5 Oct 14, 2022 (156)
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)
rs17212349 Oct 08, 2004 (123)
rs58605084 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss217321416, ss217418277, ss217418998, ss217422389, ss485584672, ss491921978, ss1594862254, ss3639376744, ss3639717191 NC_000008.9:19855105:G:A NC_000008.11:19953314:G:A (self)
41009785, 22797046, 16222679, 9205025, 53806, 8758680, 6190560, 809232, 10186909, 310453, 8751881, 10604278, 21453657, 5718354, 22797046, ss223585614, ss234352461, ss342253776, ss479396842, ss481420559, ss490960912, ss532953189, ss560600095, ss655035530, ss779578989, ss780971180, ss835050508, ss985272593, ss1067495942, ss1075339985, ss1328915045, ss1582593742, ss1584057345, ss1620133657, ss1663127690, ss1689111439, ss1711194693, ss1928562348, ss2024980535, ss2153202000, ss2634720436, ss2737022196, ss2748007671, ss2864092627, ss2986076158, ss3002804403, ss3348082014, ss3630013626, ss3632620987, ss3636899251, ss3642618962, ss3670484431, ss3735467016, ss3767717729, ss3824351378, ss3825737069, ss3831054887, ss3869436677, ss3984393681, ss3984393682, ss3986415460, ss5379642032, ss5624176076, ss5644923803, ss5830224440, ss5848702257, ss5974104286 NC_000008.10:19810825:G:A NC_000008.11:19953314:G:A (self)
RCV000302825.4, RCV000587704.5, 53779856, 289194330, 3580963, 615469851, 9840398707, ss2301287756, ss3026281091, ss3721555409, ss3810881189, ss4778092291, ss5237651000, ss5276330103, ss5472980729, ss5566253921, ss5888021414 NC_000008.11:19953314:G:A NC_000008.11:19953314:G:A (self)
ss19754678 NT_030737.8:7621746:G:A NC_000008.11:19953314:G:A (self)
ss248, ss24421378, ss65726953, ss66743579, ss67256904, ss67655342, ss69043144, ss71644841, ss83344066, ss86240924, ss160551570, ss161627724, ss410878519 NT_167187.1:7668971:G:A NC_000008.11:19953314:G:A (self)
Help

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

5 citations for rs248
PMID Title Author Year Journal
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
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
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
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
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
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.post825+45319f0