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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.

rs325

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:19961817 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.088243 (23357/264690, TOPMED)
C=0.089582 (12545/140040, GnomAD)
C=0.07926 (6237/78690, PAGE_STUDY) (+ 21 more)
C=0.12945 (3658/28258, 14KJPN)
C=0.08663 (2428/28026, ALFA)
C=0.12995 (2178/16760, 8.3KJPN)
C=0.0937 (600/6404, 1000G_30x)
C=0.0927 (464/5008, 1000G)
C=0.0670 (300/4480, Estonian)
C=0.1064 (410/3854, ALSPAC)
C=0.1079 (400/3708, TWINSUK)
C=0.1208 (354/2930, KOREAN)
C=0.0908 (103/1134, Daghestan)
C=0.117 (117/998, GoNL)
C=0.075 (59/788, PRJEB37584)
C=0.085 (51/600, NorthernSweden)
C=0.097 (32/330, HapMap)
C=0.074 (16/216, Qatari)
C=0.089 (19/214, Vietnamese)
T=0.47 (36/76, SGDP_PRJ)
C=0.10 (4/40, GENOME_DK)
C=0.38 (12/32, Ancient Sardinia)
T=0.5 (3/6, Siberian)
C=0.5 (3/6, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
LPL : Intron Variant
Publications
5 citations
Genomic View
See rs on genome

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

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 33154 T=0.91440 C=0.08560, G=0.00000 0.835676 0.006877 0.157447 0
European Sub 23608 T=0.90685 C=0.09315, G=0.00000 0.821755 0.008048 0.170197 0
African Sub 6658 T=0.9407 C=0.0593, G=0.0000 0.884049 0.002704 0.113247 0
African Others Sub 250 T=0.952 C=0.048, G=0.000 0.904 0.0 0.096 0
African American Sub 6408 T=0.9402 C=0.0598, G=0.0000 0.883271 0.002809 0.11392 0
Asian Sub 148 T=0.845 C=0.155, G=0.000 0.689189 0.0 0.310811 2
East Asian Sub 122 T=0.828 C=0.172, G=0.000 0.655738 0.0 0.344262 2
Other Asian Sub 26 T=0.92 C=0.08, G=0.00 0.846154 0.0 0.153846 0
Latin American 1 Sub 146 T=0.925 C=0.075, G=0.000 0.863014 0.013699 0.123288 1
Latin American 2 Sub 610 T=0.939 C=0.061, G=0.000 0.881967 0.003279 0.114754 0
South Asian Sub 106 T=0.868 C=0.132, G=0.000 0.773585 0.037736 0.188679 1
Other Sub 1878 T=0.9153 C=0.0847, G=0.0000 0.837061 0.00639 0.15655 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 T=0.911757 C=0.088243
gnomAD - Genomes Global Study-wide 140040 T=0.910418 C=0.089582
gnomAD - Genomes European Sub 75830 T=0.89987 C=0.10013
gnomAD - Genomes African Sub 41968 T=0.92899 C=0.07101
gnomAD - Genomes American Sub 13642 T=0.91819 C=0.08181
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.8951 C=0.1049
gnomAD - Genomes East Asian Sub 3130 T=0.8939 C=0.1061
gnomAD - Genomes Other Sub 2152 T=0.9182 C=0.0818
The PAGE Study Global Study-wide 78690 T=0.92074 C=0.07926
The PAGE Study AfricanAmerican Sub 32512 T=0.93018 C=0.06982
The PAGE Study Mexican Sub 10808 T=0.93338 C=0.06662
The PAGE Study Asian Sub 8314 T=0.8804 C=0.1196
The PAGE Study PuertoRican Sub 7918 T=0.9168 C=0.0832
The PAGE Study NativeHawaiian Sub 4532 T=0.9122 C=0.0878
The PAGE Study Cuban Sub 4230 T=0.8929 C=0.1071
The PAGE Study Dominican Sub 3828 T=0.9274 C=0.0726
The PAGE Study CentralAmerican Sub 2450 T=0.9412 C=0.0588
The PAGE Study SouthAmerican Sub 1982 T=0.9284 C=0.0716
The PAGE Study NativeAmerican Sub 1260 T=0.9278 C=0.0722
The PAGE Study SouthAsian Sub 856 T=0.897 C=0.103
14KJPN JAPANESE Study-wide 28258 T=0.87055 C=0.12945
Allele Frequency Aggregator Total Global 28026 T=0.91337 C=0.08663, G=0.00000
Allele Frequency Aggregator European Sub 20438 T=0.90596 C=0.09404, G=0.00000
Allele Frequency Aggregator African Sub 5516 T=0.9411 C=0.0589, G=0.0000
Allele Frequency Aggregator Other Sub 1062 T=0.9096 C=0.0904, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.939 C=0.061, G=0.000
Allele Frequency Aggregator Asian Sub 148 T=0.845 C=0.155, G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.925 C=0.075, G=0.000
Allele Frequency Aggregator South Asian Sub 106 T=0.868 C=0.132, G=0.000
8.3KJPN JAPANESE Study-wide 16760 T=0.87005 C=0.12995
1000Genomes_30x Global Study-wide 6404 T=0.9063 C=0.0937
1000Genomes_30x African Sub 1786 T=0.9390 C=0.0610
1000Genomes_30x Europe Sub 1266 T=0.8578 C=0.1422
1000Genomes_30x South Asian Sub 1202 T=0.9135 C=0.0865
1000Genomes_30x East Asian Sub 1170 T=0.8786 C=0.1214
1000Genomes_30x American Sub 980 T=0.934 C=0.066
1000Genomes Global Study-wide 5008 T=0.9073 C=0.0927
1000Genomes African Sub 1322 T=0.9387 C=0.0613
1000Genomes East Asian Sub 1008 T=0.8780 C=0.1220
1000Genomes Europe Sub 1006 T=0.8698 C=0.1302
1000Genomes South Asian Sub 978 T=0.913 C=0.087
1000Genomes American Sub 694 T=0.937 C=0.063
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9330 C=0.0670
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8936 C=0.1064
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8921 C=0.1079
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.8792 C=0.1208
Genome-wide autozygosity in Daghestan Global Study-wide 1134 T=0.9092 C=0.0908
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.933 C=0.067
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.889 C=0.111
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.918 C=0.082
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.852 C=0.148
Genome-wide autozygosity in Daghestan South Asian Sub 96 T=0.83 C=0.17
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.92 C=0.08
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.883 C=0.117
CNV burdens in cranial meningiomas Global Study-wide 788 T=0.925 C=0.075
CNV burdens in cranial meningiomas CRM Sub 788 T=0.925 C=0.075
Northern Sweden ACPOP Study-wide 600 T=0.915 C=0.085
HapMap Global Study-wide 330 T=0.903 C=0.097
HapMap African Sub 120 T=0.967 C=0.033
HapMap American Sub 120 T=0.875 C=0.125
HapMap Asian Sub 90 T=0.86 C=0.14
Qatari Global Study-wide 216 T=0.926 C=0.074
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.911 C=0.089
SGDP_PRJ Global Study-wide 76 T=0.47 C=0.53
The Danish reference pan genome Danish Study-wide 40 T=0.90 C=0.10
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 32 T=0.62 C=0.38
Siberian Global Study-wide 6 T=0.5 C=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.19961817T>C
GRCh38.p14 chr 8 NC_000008.11:g.19961817T>G
GRCh37.p13 chr 8 NC_000008.10:g.19819328T>C
GRCh37.p13 chr 8 NC_000008.10:g.19819328T>G
LPL RefSeqGene (LRG_1298) NG_008855.2:g.65101T>C
LPL RefSeqGene (LRG_1298) NG_008855.2:g.65101T>G
Gene: LPL, lipoprotein lipase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LPL transcript NM_000237.3:c.1323-298T>C 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: C (allele ID: 1163508 )
ClinVar Accession Disease Names Clinical Significance
RCV001528041.1 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 T= C G
GRCh38.p14 chr 8 NC_000008.11:g.19961817= NC_000008.11:g.19961817T>C NC_000008.11:g.19961817T>G
GRCh37.p13 chr 8 NC_000008.10:g.19819328= NC_000008.10:g.19819328T>C NC_000008.10:g.19819328T>G
LPL RefSeqGene (LRG_1298) NG_008855.2:g.65101= NG_008855.2:g.65101T>C NG_008855.2:g.65101T>G
LPL transcript NM_000237.2:c.1323-298= NM_000237.2:c.1323-298T>C NM_000237.2:c.1323-298T>G
LPL transcript NM_000237.3:c.1323-298= NM_000237.3:c.1323-298T>C NM_000237.3:c.1323-298T>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#.

68 SubSNP, 23 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 DEBNICK ss326 Sep 19, 2000 (36)
2 YUSUKE ss5010640 Aug 28, 2002 (108)
3 SNP500CANCER ss12675526 Nov 17, 2003 (118)
4 PERLEGEN ss24648899 Sep 20, 2004 (123)
5 1000GENOMES ss234352501 Jul 15, 2010 (132)
6 1000GENOMES ss241227316 Jul 15, 2010 (132)
7 BL ss254171501 May 09, 2011 (134)
8 GMI ss279724042 May 04, 2012 (137)
9 ILLUMINA ss410878565 Sep 17, 2011 (135)
10 EXOME_CHIP ss491410897 May 04, 2012 (137)
11 SSMP ss655035589 Apr 25, 2013 (138)
12 EVA-GONL ss985272680 Aug 21, 2014 (142)
13 JMKIDD_LAB ss1075340054 Aug 21, 2014 (142)
14 1000GENOMES ss1328915343 Aug 21, 2014 (142)
15 HAMMER_LAB ss1397520209 Sep 08, 2015 (146)
16 EVA_GENOME_DK ss1582593785 Apr 01, 2015 (144)
17 EVA_DECODE ss1594862341 Apr 01, 2015 (144)
18 EVA_UK10K_ALSPAC ss1620133809 Apr 01, 2015 (144)
19 EVA_UK10K_TWINSUK ss1663127842 Apr 01, 2015 (144)
20 WEILL_CORNELL_DGM ss1928562436 Feb 12, 2016 (147)
21 ILLUMINA ss1959093910 Feb 12, 2016 (147)
22 JJLAB ss2024980588 Sep 14, 2016 (149)
23 USC_VALOUEV ss2153202048 Dec 20, 2016 (150)
24 HUMAN_LONGEVITY ss2301288376 Dec 20, 2016 (150)
25 ILLUMINA ss2634720464 Nov 08, 2017 (151)
26 ILLUMINA ss2634720465 Nov 08, 2017 (151)
27 GRF ss2708962557 Nov 08, 2017 (151)
28 GNOMAD ss2864093376 Nov 08, 2017 (151)
29 AFFY ss2985433061 Nov 08, 2017 (151)
30 AFFY ss2986076212 Nov 08, 2017 (151)
31 SWEGEN ss3002804508 Nov 08, 2017 (151)
32 ILLUMINA ss3022826107 Nov 08, 2017 (151)
33 BIOINF_KMB_FNS_UNIBA ss3026281127 Nov 08, 2017 (151)
34 CSHL ss3348082056 Nov 08, 2017 (151)
35 ILLUMINA ss3653367063 Oct 12, 2018 (152)
36 ILLUMINA ss3654194875 Oct 12, 2018 (152)
37 EGCUT_WGS ss3670484551 Jul 13, 2019 (153)
38 ILLUMINA ss3726520378 Jul 13, 2019 (153)
39 ACPOP ss3735467088 Jul 13, 2019 (153)
40 EVA ss3767717819 Jul 13, 2019 (153)
41 PAGE_CC ss3771428705 Jul 13, 2019 (153)
42 PACBIO ss3786087387 Jul 13, 2019 (153)
43 PACBIO ss3791353792 Jul 13, 2019 (153)
44 PACBIO ss3796234959 Jul 13, 2019 (153)
45 KHV_HUMAN_GENOMES ss3810881298 Jul 13, 2019 (153)
46 EVA ss3831054944 Apr 26, 2020 (154)
47 SGDP_PRJ ss3869436807 Apr 26, 2020 (154)
48 KRGDB ss3916862651 Apr 26, 2020 (154)
49 EVA ss3984602264 Apr 27, 2021 (155)
50 EVA ss3985347119 Apr 27, 2021 (155)
51 TOPMED ss4778094635 Apr 27, 2021 (155)
52 TOMMO_GENOMICS ss5187654647 Apr 27, 2021 (155)
53 EVA ss5237438121 Apr 27, 2021 (155)
54 1000G_HIGH_COVERAGE ss5276330346 Oct 14, 2022 (156)
55 EVA ss5379642498 Oct 14, 2022 (156)
56 HUGCELL_USP ss5472980954 Oct 14, 2022 (156)
57 EVA ss5509275491 Oct 14, 2022 (156)
58 1000G_HIGH_COVERAGE ss5566254294 Oct 14, 2022 (156)
59 SANFORD_IMAGENETICS ss5624687998 Oct 14, 2022 (156)
60 SANFORD_IMAGENETICS ss5644923955 Oct 14, 2022 (156)
61 TOMMO_GENOMICS ss5729271302 Oct 14, 2022 (156)
62 YY_MCH ss5809516782 Oct 14, 2022 (156)
63 EVA ss5830224534 Oct 14, 2022 (156)
64 EVA ss5848169562 Oct 14, 2022 (156)
65 EVA ss5856287113 Oct 14, 2022 (156)
66 EVA ss5888021713 Oct 14, 2022 (156)
67 EVA ss5974104451 Oct 14, 2022 (156)
68 EVA ss5979856498 Oct 14, 2022 (156)
69 1000Genomes NC_000008.10 - 19819328 Oct 12, 2018 (152)
70 1000Genomes_30x NC_000008.11 - 19961817 Oct 14, 2022 (156)
71 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 19819328 Oct 12, 2018 (152)
72 Genome-wide autozygosity in Daghestan NC_000008.9 - 19863608 Apr 26, 2020 (154)
73 Genetic variation in the Estonian population NC_000008.10 - 19819328 Oct 12, 2018 (152)
74 The Danish reference pan genome NC_000008.10 - 19819328 Apr 26, 2020 (154)
75 gnomAD - Genomes NC_000008.11 - 19961817 Apr 27, 2021 (155)
76 Genome of the Netherlands Release 5 NC_000008.10 - 19819328 Apr 26, 2020 (154)
77 HapMap NC_000008.11 - 19961817 Apr 26, 2020 (154)
78 KOREAN population from KRGDB NC_000008.10 - 19819328 Apr 26, 2020 (154)
79 Northern Sweden NC_000008.10 - 19819328 Jul 13, 2019 (153)
80 The PAGE Study NC_000008.11 - 19961817 Jul 13, 2019 (153)
81 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 19819328 Apr 27, 2021 (155)
82 CNV burdens in cranial meningiomas NC_000008.10 - 19819328 Apr 27, 2021 (155)
83 Qatari NC_000008.10 - 19819328 Apr 26, 2020 (154)
84 SGDP_PRJ NC_000008.10 - 19819328 Apr 26, 2020 (154)
85 Siberian NC_000008.10 - 19819328 Apr 26, 2020 (154)
86 8.3KJPN NC_000008.10 - 19819328 Apr 27, 2021 (155)
87 14KJPN NC_000008.11 - 19961817 Oct 14, 2022 (156)
88 TopMed NC_000008.11 - 19961817 Apr 27, 2021 (155)
89 UK 10K study - Twins NC_000008.10 - 19819328 Oct 12, 2018 (152)
90 A Vietnamese Genetic Variation Database NC_000008.10 - 19819328 Jul 13, 2019 (153)
91 ALFA NC_000008.11 - 19961817 Apr 27, 2021 (155)
92 ClinVar RCV001528041.1 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)
rs3824162 Oct 08, 2002 (108)
rs17482545 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
494103, ss254171501, ss279724042, ss1397520209, ss1594862341 NC_000008.9:19863607:T:C NC_000008.11:19961816:T:C (self)
41010094, 22797213, 16222799, 8758723, 10186993, 24040045, 8751953, 573046, 151700, 10604366, 21453787, 5718402, 45623954, 22797213, 5083501, ss234352501, ss241227316, ss491410897, ss655035589, ss985272680, ss1075340054, ss1328915343, ss1582593785, ss1620133809, ss1663127842, ss1928562436, ss1959093910, ss2024980588, ss2153202048, ss2634720464, ss2634720465, ss2708962557, ss2864093376, ss2985433061, ss2986076212, ss3002804508, ss3022826107, ss3348082056, ss3653367063, ss3654194875, ss3670484551, ss3735467088, ss3767717819, ss3786087387, ss3791353792, ss3796234959, ss3831054944, ss3869436807, ss3916862651, ss3984602264, ss3985347119, ss5187654647, ss5237438121, ss5379642498, ss5509275491, ss5624687998, ss5644923955, ss5830224534, ss5848169562, ss5974104451, ss5979856498 NC_000008.10:19819327:T:C NC_000008.11:19961816:T:C (self)
RCV001528041.1, 53780229, 289196265, 3581007, 650174, 63108406, 615472195, 2991460721, ss2301288376, ss3026281127, ss3726520378, ss3771428705, ss3810881298, ss4778094635, ss5276330346, ss5472980954, ss5566254294, ss5729271302, ss5809516782, ss5856287113, ss5888021713 NC_000008.11:19961816:T:C NC_000008.11:19961816:T:C (self)
ss326, ss5010640, ss12675526, ss24648899, ss410878565 NT_167187.1:7677473:T:C NC_000008.11:19961816:T:C (self)
2991460721 NC_000008.11:19961816:T:G NC_000008.11:19961816:T:G (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 rs325
PMID Title Author Year Journal
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
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
20864672 Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Waterworth DM et al. 2010 Arteriosclerosis, thrombosis, and vascular biology
21995669 A genome-wide survey for SNPs altering microRNA seed sites identifies functional candidates in GWAS. Richardson K et al. 2011 BMC genomics
23105935 Interaction Effects of Lipoprotein Lipase Polymorphisms with Lifestyle on Lipid Levels in a Korean Population: A Cross-sectional Study. Pyun JA et al. 2012 Genomics & informatics
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