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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.

rs266

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:19955788 (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=0.042374 (11216/264690, TOPMED)
G=0.039715 (5559/139972, GnomAD)
G=0.00364 (103/28258, 14KJPN) (+ 14 more)
G=0.03489 (653/18714, ALFA)
G=0.00394 (66/16760, 8.3KJPN)
G=0.0543 (348/6404, 1000G_30x)
G=0.0523 (262/5008, 1000G)
G=0.0008 (3/3854, ALSPAC)
G=0.0005 (2/3708, TWINSUK)
G=0.0341 (71/2084, HGDP_Stanford)
G=0.1310 (154/1176, HapMap)
G=0.003 (2/626, Chileans)
G=0.003 (2/616, Vietnamese)
G=0.002 (1/534, MGP)
G=0.037 (8/216, Qatari)
A=0.41 (19/46, SGDP_PRJ)
G=0.00 (0/32, Ancient Sardinia)
Clinical Significance
Reported in ClinVar
Gene : Consequence
LPL : Intron 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 18714 A=0.96511 G=0.03489
European Sub 11264 A=0.99947 G=0.00053
African Sub 4774 A=0.8754 G=0.1246
African Others Sub 156 A=0.885 G=0.115
African American Sub 4618 A=0.8751 G=0.1249
Asian Sub 164 A=0.994 G=0.006
East Asian Sub 104 A=1.000 G=0.000
Other Asian Sub 60 A=0.98 G=0.02
Latin American 1 Sub 220 A=0.977 G=0.023
Latin American 2 Sub 760 A=0.992 G=0.008
South Asian Sub 110 A=0.945 G=0.055
Other Sub 1422 A=0.9761 G=0.0239


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.957626 G=0.042374
gnomAD - Genomes Global Study-wide 139972 A=0.960285 G=0.039715
gnomAD - Genomes European Sub 75826 A=0.99951 G=0.00049
gnomAD - Genomes African Sub 41928 A=0.87445 G=0.12555
gnomAD - Genomes American Sub 13622 A=0.98671 G=0.01329
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.9979 G=0.0021
gnomAD - Genomes East Asian Sub 3130 A=0.9994 G=0.0006
gnomAD - Genomes Other Sub 2144 A=0.9683 G=0.0317
14KJPN JAPANESE Study-wide 28258 A=0.99636 G=0.00364
Allele Frequency Aggregator Total Global 18714 A=0.96511 G=0.03489
Allele Frequency Aggregator European Sub 11264 A=0.99947 G=0.00053
Allele Frequency Aggregator African Sub 4774 A=0.8754 G=0.1246
Allele Frequency Aggregator Other Sub 1422 A=0.9761 G=0.0239
Allele Frequency Aggregator Latin American 2 Sub 760 A=0.992 G=0.008
Allele Frequency Aggregator Latin American 1 Sub 220 A=0.977 G=0.023
Allele Frequency Aggregator Asian Sub 164 A=0.994 G=0.006
Allele Frequency Aggregator South Asian Sub 110 A=0.945 G=0.055
8.3KJPN JAPANESE Study-wide 16760 A=0.99606 G=0.00394
1000Genomes_30x Global Study-wide 6404 A=0.9457 G=0.0543
1000Genomes_30x African Sub 1786 A=0.8499 G=0.1501
1000Genomes_30x Europe Sub 1266 A=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 A=0.9418 G=0.0582
1000Genomes_30x East Asian Sub 1170 A=0.9991 G=0.0009
1000Genomes_30x American Sub 980 A=0.991 G=0.009
1000Genomes Global Study-wide 5008 A=0.9477 G=0.0523
1000Genomes African Sub 1322 A=0.8533 G=0.1467
1000Genomes East Asian Sub 1008 A=0.9990 G=0.0010
1000Genomes Europe Sub 1006 A=1.0000 G=0.0000
1000Genomes South Asian Sub 978 A=0.938 G=0.062
1000Genomes American Sub 694 A=0.991 G=0.009
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9992 G=0.0008
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9995 G=0.0005
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.9659 G=0.0341
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.969 G=0.031
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.989 G=0.011
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.802 G=0.198
HGDP-CEPH-db Supplement 1 America Sub 216 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.92 G=0.08
HapMap Global Study-wide 1176 A=0.8690 G=0.1310
HapMap African Sub 692 A=0.822 G=0.178
HapMap American Sub 394 A=0.921 G=0.079
HapMap Asian Sub 90 A=1.00 G=0.00
Chileans Chilean Study-wide 626 A=0.997 G=0.003
A Vietnamese Genetic Variation Database Global Study-wide 616 A=0.997 G=0.003
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.998 G=0.002
Qatari Global Study-wide 216 A=0.963 G=0.037
SGDP_PRJ Global Study-wide 46 A=0.41 G=0.59
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 32 A=1.00 G=0.00
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.19955788A>G
GRCh37.p13 chr 8 NC_000008.10:g.19813299A>G
LPL RefSeqGene (LRG_1298) NG_008855.2:g.59072A>G
Gene: LPL, lipoprotein lipase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LPL transcript NM_000237.3:c.776-53A>G N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G (allele ID: 1239034 )
ClinVar Accession Disease Names Clinical Significance
RCV001654602.2 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 A= G
GRCh38.p14 chr 8 NC_000008.11:g.19955788= NC_000008.11:g.19955788A>G
GRCh37.p13 chr 8 NC_000008.10:g.19813299= NC_000008.10:g.19813299A>G
LPL RefSeqGene (LRG_1298) NG_008855.2:g.59072= NG_008855.2:g.59072A>G
LPL transcript NM_000237.2:c.776-53= NM_000237.2:c.776-53A>G
LPL transcript NM_000237.3:c.776-53= NM_000237.3:c.776-53A>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#.

51 SubSNP, 17 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 DEBNICK ss266 Sep 19, 2000 (36)
2 ILLUMINA ss67666003 Nov 30, 2006 (127)
3 ILLUMINA ss71315967 May 17, 2007 (127)
4 ILLUMINA ss75347629 Dec 07, 2007 (129)
5 AFFY ss76582725 Dec 08, 2007 (130)
6 KRIBB_YJKIM ss119336839 Dec 01, 2009 (131)
7 ILLUMINA ss173421490 Jul 04, 2010 (132)
8 1000GENOMES ss223585632 Jul 14, 2010 (132)
9 ILLUMINA ss410878536 Sep 17, 2011 (135)
10 CLINSEQ_SNP ss491921982 May 04, 2012 (137)
11 ILLUMINA ss537113452 Sep 08, 2015 (146)
12 TISHKOFF ss560600110 Apr 25, 2013 (138)
13 SSMP ss655035551 Apr 25, 2013 (138)
14 JMKIDD_LAB ss974467408 Aug 21, 2014 (142)
15 JMKIDD_LAB ss1067495944 Aug 21, 2014 (142)
16 JMKIDD_LAB ss1075340004 Aug 21, 2014 (142)
17 1000GENOMES ss1328915138 Aug 21, 2014 (142)
18 EVA_UK10K_ALSPAC ss1620133698 Apr 01, 2015 (144)
19 EVA_UK10K_TWINSUK ss1663127731 Apr 01, 2015 (144)
20 EVA_MGP ss1711194701 Apr 01, 2015 (144)
21 EVA_SVP ss1713021089 Apr 01, 2015 (144)
22 HAMMER_LAB ss1805432781 Sep 08, 2015 (146)
23 WEILL_CORNELL_DGM ss1928562367 Feb 12, 2016 (147)
24 HUMAN_LONGEVITY ss2301287934 Dec 20, 2016 (150)
25 GNOMAD ss2864092833 Nov 08, 2017 (151)
26 AFFY ss2986076173 Nov 08, 2017 (151)
27 ILLUMINA ss3630013636 Oct 12, 2018 (152)
28 ILLUMINA ss3638748367 Oct 12, 2018 (152)
29 ILLUMINA ss3643680165 Oct 12, 2018 (152)
30 OMUKHERJEE_ADBS ss3646373019 Oct 12, 2018 (152)
31 KHV_HUMAN_GENOMES ss3810881218 Jul 13, 2019 (153)
32 EVA ss3825737073 Apr 26, 2020 (154)
33 EVA ss3831054899 Apr 26, 2020 (154)
34 HGDP ss3847906863 Apr 26, 2020 (154)
35 SGDP_PRJ ss3869436712 Apr 26, 2020 (154)
36 FSA-LAB ss3984393694 Apr 27, 2021 (155)
37 EVA ss3985347110 Apr 27, 2021 (155)
38 EVA ss3986415473 Apr 27, 2021 (155)
39 EVA ss4017379938 Apr 27, 2021 (155)
40 TOPMED ss4778092964 Apr 27, 2021 (155)
41 TOMMO_GENOMICS ss5187654411 Apr 27, 2021 (155)
42 1000G_HIGH_COVERAGE ss5276330169 Oct 14, 2022 (156)
43 EVA ss5379642187 Oct 14, 2022 (156)
44 HUGCELL_USP ss5472980784 Oct 14, 2022 (156)
45 1000G_HIGH_COVERAGE ss5566254034 Oct 14, 2022 (156)
46 SANFORD_IMAGENETICS ss5644923843 Oct 14, 2022 (156)
47 TOMMO_GENOMICS ss5729271010 Oct 14, 2022 (156)
48 EVA ss5830224464 Oct 14, 2022 (156)
49 EVA ss5856287087 Oct 14, 2022 (156)
50 EVA ss5888021511 Oct 14, 2022 (156)
51 EVA ss5974104335 Oct 14, 2022 (156)
52 1000Genomes NC_000008.10 - 19813299 Oct 12, 2018 (152)
53 1000Genomes_30x NC_000008.11 - 19955788 Oct 14, 2022 (156)
54 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 19813299 Oct 12, 2018 (152)
55 Chileans NC_000008.10 - 19813299 Apr 26, 2020 (154)
56 gnomAD - Genomes NC_000008.11 - 19955788 Apr 27, 2021 (155)
57 HGDP-CEPH-db Supplement 1 NC_000008.9 - 19857579 Apr 26, 2020 (154)
58 HapMap NC_000008.11 - 19955788 Apr 26, 2020 (154)
59 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 19813299 Apr 26, 2020 (154)
60 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 19813299 Apr 27, 2021 (155)
61 Qatari NC_000008.10 - 19813299 Apr 26, 2020 (154)
62 SGDP_PRJ NC_000008.10 - 19813299 Apr 26, 2020 (154)
63 8.3KJPN NC_000008.10 - 19813299 Apr 27, 2021 (155)
64 14KJPN NC_000008.11 - 19955788 Oct 14, 2022 (156)
65 TopMed NC_000008.11 - 19955788 Apr 27, 2021 (155)
66 UK 10K study - Twins NC_000008.10 - 19813299 Oct 12, 2018 (152)
67 A Vietnamese Genetic Variation Database NC_000008.10 - 19813299 Jul 13, 2019 (153)
68 ALFA NC_000008.11 - 19955788 Apr 27, 2021 (155)
69 ClinVar RCV001654602.2 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)
rs56621234 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
584755, ss76582725, ss491921982, ss1713021089, ss3643680165, ss3847906863 NC_000008.9:19857578:A:G NC_000008.11:19955787:A:G (self)
41009881, 22797091, 429639, 310461, 573037, 10604297, 21453692, 45623718, 22797091, 5083466, ss223585632, ss537113452, ss560600110, ss655035551, ss974467408, ss1067495944, ss1075340004, ss1328915138, ss1620133698, ss1663127731, ss1711194701, ss1805432781, ss1928562367, ss2864092833, ss2986076173, ss3630013636, ss3638748367, ss3646373019, ss3825737073, ss3831054899, ss3869436712, ss3984393694, ss3985347110, ss3986415473, ss4017379938, ss5187654411, ss5379642187, ss5644923843, ss5830224464, ss5974104335 NC_000008.10:19813298:A:G NC_000008.11:19955787:A:G (self)
RCV001654602.2, 53779969, 289194826, 3580979, 63108114, 615470524, 8981172079, ss2301287934, ss3810881218, ss4778092964, ss5276330169, ss5472980784, ss5566254034, ss5729271010, ss5856287087, ss5888021511 NC_000008.11:19955787:A:G NC_000008.11:19955787:A:G (self)
ss266, ss67666003, ss71315967, ss75347629, ss119336839, ss173421490, ss410878536 NT_167187.1:7671444:A:G NC_000008.11:19955787: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 rs266

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