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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs300

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:19959376 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000331 (92/278238, ALFA)
G=0.003925 (1039/264690, TOPMED)
G=0.000800 (201/251160, GnomAD_exome) (+ 10 more)
G=0.003534 (495/140062, GnomAD)
G=0.001084 (131/120804, ExAC)
G=0.00630 (496/78696, PAGE_STUDY)
G=0.00438 (57/13006, GO-ESP)
G=0.0036 (23/6404, 1000G_30x)
G=0.0038 (19/5008, 1000G)
G=0.008 (5/608, HapMap)
G=0.005 (1/216, Qatari)
A=0.5 (1/2, SGDP_PRJ)
G=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
LPL : Missense Variant
Publications
0 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 294106 A=0.999510 G=0.000490
European Sub 248658 A=0.999972 G=0.000028
African Sub 12890 A=0.99077 G=0.00923
African Others Sub 478 A=0.992 G=0.008
African American Sub 12412 A=0.99073 G=0.00927
Asian Sub 6814 A=1.0000 G=0.0000
East Asian Sub 4862 A=1.0000 G=0.0000
Other Asian Sub 1952 A=1.0000 G=0.0000
Latin American 1 Sub 1318 A=0.9977 G=0.0023
Latin American 2 Sub 2530 A=0.9992 G=0.0008
South Asian Sub 360 A=1.000 G=0.000
Other Sub 21536 A=0.99940 G=0.00060


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
Allele Frequency Aggregator Total Global 278238 A=0.999669 G=0.000331
Allele Frequency Aggregator European Sub 238916 A=0.999971 G=0.000029
Allele Frequency Aggregator Other Sub 20152 A=0.99955 G=0.00045
Allele Frequency Aggregator African Sub 8148 A=0.9913 G=0.0087
Allele Frequency Aggregator Asian Sub 6814 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2530 A=0.9992 G=0.0008
Allele Frequency Aggregator Latin American 1 Sub 1318 A=0.9977 G=0.0023
Allele Frequency Aggregator South Asian Sub 360 A=1.000 G=0.000
TopMed Global Study-wide 264690 A=0.996075 G=0.003925
gnomAD - Exomes Global Study-wide 251160 A=0.999200 G=0.000800
gnomAD - Exomes European Sub 135194 A=0.999985 G=0.000015
gnomAD - Exomes Asian Sub 48986 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34526 A=0.99959 G=0.00041
gnomAD - Exomes African Sub 16254 A=0.98874 G=0.01126
gnomAD - Exomes Ashkenazi Jewish Sub 10074 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6126 A=0.9997 G=0.0003
gnomAD - Genomes Global Study-wide 140062 A=0.996466 G=0.003534
gnomAD - Genomes European Sub 75878 A=0.99995 G=0.00005
gnomAD - Genomes African Sub 41936 A=0.98910 G=0.01090
gnomAD - Genomes American Sub 13646 A=0.99817 G=0.00183
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3130 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2150 A=0.9958 G=0.0042
ExAC Global Study-wide 120804 A=0.998916 G=0.001084
ExAC Europe Sub 73012 A=1.00000 G=0.00000
ExAC Asian Sub 25070 A=1.00000 G=0.00000
ExAC American Sub 11452 A=0.99974 G=0.00026
ExAC African Sub 10364 A=0.98765 G=0.01235
ExAC Other Sub 906 A=1.000 G=0.000
The PAGE Study Global Study-wide 78696 A=0.99370 G=0.00630
The PAGE Study AfricanAmerican Sub 32512 A=0.98810 G=0.01190
The PAGE Study Mexican Sub 10810 A=0.99963 G=0.00037
The PAGE Study Asian Sub 8316 A=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7918 A=0.9912 G=0.0088
The PAGE Study NativeHawaiian Sub 4534 A=0.9998 G=0.0002
The PAGE Study Cuban Sub 4230 A=0.9986 G=0.0014
The PAGE Study Dominican Sub 3828 A=0.9963 G=0.0037
The PAGE Study CentralAmerican Sub 2450 A=0.9967 G=0.0033
The PAGE Study SouthAmerican Sub 1982 A=0.9980 G=0.0020
The PAGE Study NativeAmerican Sub 1260 A=0.9984 G=0.0016
The PAGE Study SouthAsian Sub 856 A=1.000 G=0.000
GO Exome Sequencing Project Global Study-wide 13006 A=0.99562 G=0.00438
GO Exome Sequencing Project European American Sub 8600 A=1.0000 G=0.0000
GO Exome Sequencing Project African American Sub 4406 A=0.9871 G=0.0129
1000Genomes_30x Global Study-wide 6404 A=0.9964 G=0.0036
1000Genomes_30x African Sub 1786 A=0.9871 G=0.0129
1000Genomes_30x Europe Sub 1266 A=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 A=1.0000 G=0.0000
1000Genomes_30x East Asian Sub 1170 A=1.0000 G=0.0000
1000Genomes_30x American Sub 980 A=1.000 G=0.000
1000Genomes Global Study-wide 5008 A=0.9962 G=0.0038
1000Genomes African Sub 1322 A=0.9856 G=0.0144
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=1.0000 G=0.0000
1000Genomes South Asian Sub 978 A=1.000 G=0.000
1000Genomes American Sub 694 A=1.000 G=0.000
HapMap Global Study-wide 608 A=0.992 G=0.008
HapMap African Sub 406 A=0.988 G=0.012
HapMap American Sub 116 A=1.000 G=0.000
HapMap Asian Sub 86 A=1.00 G=0.00
Qatari Global Study-wide 216 A=0.995 G=0.005
SGDP_PRJ Global Study-wide 2 A=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.p14 chr 8 NC_000008.11:g.19959376A>G
GRCh37.p13 chr 8 NC_000008.10:g.19816887A>G
LPL RefSeqGene (LRG_1298) NG_008855.2:g.62660A>G
Gene: LPL, lipoprotein lipase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LPL transcript NM_000237.3:c.1135A>G T [ACT] > A [GCT] Coding Sequence Variant
lipoprotein lipase precursor NP_000228.1:p.Thr379Ala T (Thr) > A (Ala) Missense 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: 487383 )
ClinVar Accession Disease Names Clinical Significance
RCV000588862.6 not provided Benign-Likely-Benign
RCV001164213.4 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 A= G
GRCh38.p14 chr 8 NC_000008.11:g.19959376= NC_000008.11:g.19959376A>G
GRCh37.p13 chr 8 NC_000008.10:g.19816887= NC_000008.10:g.19816887A>G
LPL RefSeqGene (LRG_1298) NG_008855.2:g.62660= NG_008855.2:g.62660A>G
LPL transcript NM_000237.3:c.1135= NM_000237.3:c.1135A>G
LPL transcript NM_000237.2:c.1135= NM_000237.2:c.1135A>G
lipoprotein lipase precursor NP_000228.1:p.Thr379= NP_000228.1:p.Thr379Ala
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#.

79 SubSNP, 12 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 DEBNICK ss300 Sep 19, 2000 (36)
2 SNP500CANCER ss48295484 Mar 13, 2006 (126)
3 APPLERA_GI ss48420137 Mar 13, 2006 (126)
4 PERLEGEN ss69043151 May 17, 2007 (127)
5 AFFY ss74818502 Aug 16, 2007 (128)
6 ILLUMINA ss74861242 Dec 06, 2007 (129)
7 ILLUMINA ss160605679 Dec 01, 2009 (131)
8 ILLUMINA ss173549625 Jul 04, 2010 (132)
9 1000GENOMES ss217419007 Jul 14, 2010 (132)
10 1000GENOMES ss217422414 Jul 14, 2010 (132)
11 ILLUMINA ss244293207 Jul 04, 2010 (132)
12 NHLBI-ESP ss342253788 May 09, 2011 (134)
13 1000GENOMES ss460266517 Sep 17, 2011 (135)
14 ILLUMINA ss480738041 May 04, 2012 (137)
15 ILLUMINA ss480753874 May 04, 2012 (137)
16 ILLUMINA ss481637149 Sep 08, 2015 (146)
17 ILLUMINA ss485163749 May 04, 2012 (137)
18 1000GENOMES ss490960923 May 04, 2012 (137)
19 EXOME_CHIP ss491410893 May 04, 2012 (137)
20 ILLUMINA ss537156301 Sep 08, 2015 (146)
21 ILLUMINA ss778886714 Sep 08, 2015 (146)
22 ILLUMINA ss780867934 Aug 21, 2014 (142)
23 ILLUMINA ss783028115 Aug 21, 2014 (142)
24 ILLUMINA ss783552868 Aug 21, 2014 (142)
25 ILLUMINA ss783987891 Sep 08, 2015 (146)
26 ILLUMINA ss832285710 Apr 01, 2015 (144)
27 ILLUMINA ss834347771 Sep 08, 2015 (146)
28 1000GENOMES ss1328915266 Aug 21, 2014 (142)
29 EVA_EXAC ss1689111629 Apr 01, 2015 (144)
30 ILLUMINA ss1752723239 Sep 08, 2015 (146)
31 ILLUMINA ss1752723240 Sep 08, 2015 (146)
32 ILLUMINA ss1917826323 Feb 12, 2016 (147)
33 WEILL_CORNELL_DGM ss1928562410 Feb 12, 2016 (147)
34 ILLUMINA ss1946231542 Feb 12, 2016 (147)
35 ILLUMINA ss1959093893 Feb 12, 2016 (147)
36 HUMAN_LONGEVITY ss2301288209 Dec 20, 2016 (150)
37 ILLUMINA ss2634720456 Nov 08, 2017 (151)
38 GNOMAD ss2737022459 Nov 08, 2017 (151)
39 GNOMAD ss2748007749 Nov 08, 2017 (151)
40 GNOMAD ss2864093160 Nov 08, 2017 (151)
41 AFFY ss2985433055 Nov 08, 2017 (151)
42 AFFY ss2986076199 Nov 08, 2017 (151)
43 ILLUMINA ss3630013651 Oct 12, 2018 (152)
44 ILLUMINA ss3630013652 Oct 12, 2018 (152)
45 ILLUMINA ss3632621000 Oct 12, 2018 (152)
46 ILLUMINA ss3633493725 Oct 12, 2018 (152)
47 ILLUMINA ss3634220171 Oct 12, 2018 (152)
48 ILLUMINA ss3635162177 Oct 12, 2018 (152)
49 ILLUMINA ss3635162178 Oct 12, 2018 (152)
50 ILLUMINA ss3635899141 Oct 12, 2018 (152)
51 ILLUMINA ss3636899258 Oct 12, 2018 (152)
52 ILLUMINA ss3637652280 Oct 12, 2018 (152)
53 ILLUMINA ss3638748373 Oct 12, 2018 (152)
54 ILLUMINA ss3640869467 Oct 12, 2018 (152)
55 ILLUMINA ss3640869468 Oct 12, 2018 (152)
56 ILLUMINA ss3643680171 Oct 12, 2018 (152)
57 ILLUMINA ss3644964716 Oct 12, 2018 (152)
58 ILLUMINA ss3654194869 Oct 12, 2018 (152)
59 ILLUMINA ss3744577753 Jul 13, 2019 (153)
60 ILLUMINA ss3745461960 Jul 13, 2019 (153)
61 ILLUMINA ss3745461961 Jul 13, 2019 (153)
62 PAGE_CC ss3771428694 Jul 13, 2019 (153)
63 ILLUMINA ss3772954553 Jul 13, 2019 (153)
64 ILLUMINA ss3772954554 Jul 13, 2019 (153)
65 EVA ss3824351418 Apr 26, 2020 (154)
66 EVA ss3825737078 Apr 26, 2020 (154)
67 SGDP_PRJ ss3869436768 Apr 26, 2020 (154)
68 EVA ss3986415485 Apr 27, 2021 (155)
69 EVA ss4017379944 Apr 27, 2021 (155)
70 TOPMED ss4778094001 Apr 27, 2021 (155)
71 1000G_HIGH_COVERAGE ss5276330277 Oct 14, 2022 (156)
72 EVA ss5379642391 Oct 14, 2022 (156)
73 HUGCELL_USP ss5472980890 Oct 14, 2022 (156)
74 1000G_HIGH_COVERAGE ss5566254197 Oct 14, 2022 (156)
75 SANFORD_IMAGENETICS ss5644923906 Oct 14, 2022 (156)
76 EVA ss5848169556 Oct 14, 2022 (156)
77 EVA ss5888021638 Oct 14, 2022 (156)
78 EVA ss5974104407 Oct 14, 2022 (156)
79 EVA ss5979856494 Oct 14, 2022 (156)
80 1000Genomes NC_000008.10 - 19816887 Oct 12, 2018 (152)
81 1000Genomes_30x NC_000008.11 - 19959376 Oct 14, 2022 (156)
82 ExAC NC_000008.10 - 19816887 Oct 12, 2018 (152)
83 gnomAD - Genomes NC_000008.11 - 19959376 Apr 27, 2021 (155)
84 gnomAD - Exomes NC_000008.10 - 19816887 Jul 13, 2019 (153)
85 GO Exome Sequencing Project NC_000008.10 - 19816887 Oct 12, 2018 (152)
86 HapMap NC_000008.11 - 19959376 Apr 26, 2020 (154)
87 The PAGE Study NC_000008.11 - 19959376 Jul 13, 2019 (153)
88 Qatari NC_000008.10 - 19816887 Apr 26, 2020 (154)
89 SGDP_PRJ NC_000008.10 - 19816887 Apr 26, 2020 (154)
90 TopMed NC_000008.11 - 19959376 Apr 27, 2021 (155)
91 ALFA NC_000008.11 - 19959376 Apr 27, 2021 (155)
92 ClinVar RCV000588862.6 Oct 14, 2022 (156)
93 ClinVar RCV001164213.4 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)
rs52812359 Sep 21, 2007 (128)
rs386578403 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss160605679, ss217419007, ss217422414, ss244293207, ss480738041, ss3643680171 NC_000008.9:19861166:A:G NC_000008.11:19959375:A:G (self)
41010013, 9205226, 6190856, 809269, 10604340, 21453748, ss342253788, ss460266517, ss480753874, ss481637149, ss485163749, ss490960923, ss491410893, ss537156301, ss778886714, ss780867934, ss783028115, ss783552868, ss783987891, ss832285710, ss834347771, ss1328915266, ss1689111629, ss1752723239, ss1752723240, ss1917826323, ss1928562410, ss1946231542, ss1959093893, ss2634720456, ss2737022459, ss2748007749, ss2864093160, ss2985433055, ss2986076199, ss3630013651, ss3630013652, ss3632621000, ss3633493725, ss3634220171, ss3635162177, ss3635162178, ss3635899141, ss3636899258, ss3637652280, ss3638748373, ss3640869467, ss3640869468, ss3644964716, ss3654194869, ss3744577753, ss3745461960, ss3745461961, ss3772954553, ss3772954554, ss3824351418, ss3825737078, ss3869436768, ss3986415485, ss4017379944, ss5379642391, ss5644923906, ss5848169556, ss5974104407, ss5979856494 NC_000008.10:19816886:A:G NC_000008.11:19959375:A:G (self)
RCV000588862.6, RCV001164213.4, 53780132, 289195667, 3580998, 650163, 615471561, 5336295256, ss2301288209, ss3771428694, ss4778094001, ss5276330277, ss5472980890, ss5566254197, ss5888021638 NC_000008.11:19959375:A:G NC_000008.11:19959375:A:G (self)
ss300, ss48295484, ss48420137, ss69043151, ss74818502, ss74861242, ss173549625 NT_167187.1:7675032:A:G NC_000008.11:19959375: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.

No publications for rs300

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.post761+d5e8e07