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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.

rs2068942

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:66730775 (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 / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.481983 (127576/264690, TOPMED)
A=0.497820 (69652/139914, GnomAD)
A=0.36326 (10265/28258, 14KJPN) (+ 18 more)
G=0.46123 (11231/24350, ALFA)
A=0.36569 (6129/16760, 8.3KJPN)
A=0.4208 (2695/6404, 1000G_30x)
A=0.4223 (2115/5008, 1000G)
G=0.3855 (1727/4480, Estonian)
G=0.4071 (1569/3854, ALSPAC)
G=0.4075 (1511/3708, TWINSUK)
A=0.3275 (959/2928, KOREAN)
A=0.4059 (768/1892, HapMap)
A=0.3504 (642/1832, Korea1K)
G=0.437 (436/998, GoNL)
G=0.367 (220/600, NorthernSweden)
A=0.273 (124/454, SGDP_PRJ)
A=0.454 (98/216, Qatari)
A=0.416 (89/214, Vietnamese)
A=0.40 (20/50, Ancient Sardinia)
G=0.38 (15/40, GENOME_DK)
A=0.33 (13/40, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DYNC1LI2 : 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 24350 A=0.53877 G=0.46123
European Sub 18126 A=0.58557 G=0.41443
African Sub 4114 A=0.3690 G=0.6310
African Others Sub 148 A=0.297 G=0.703
African American Sub 3966 A=0.3717 G=0.6283
Asian Sub 124 A=0.258 G=0.742
East Asian Sub 96 A=0.29 G=0.71
Other Asian Sub 28 A=0.14 G=0.86
Latin American 1 Sub 168 A=0.476 G=0.524
Latin American 2 Sub 670 A=0.454 G=0.546
South Asian Sub 98 A=0.41 G=0.59
Other Sub 1050 A=0.5057 G=0.4943


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=0.481983 G=0.518017
gnomAD - Genomes Global Study-wide 139914 A=0.497820 G=0.502180
gnomAD - Genomes European Sub 75812 A=0.58412 G=0.41588
gnomAD - Genomes African Sub 41884 A=0.36176 G=0.63824
gnomAD - Genomes American Sub 13624 A=0.47526 G=0.52474
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.4395 G=0.5605
gnomAD - Genomes East Asian Sub 3122 A=0.3770 G=0.6230
gnomAD - Genomes Other Sub 2148 A=0.5140 G=0.4860
14KJPN JAPANESE Study-wide 28258 A=0.36326 G=0.63674
Allele Frequency Aggregator Total Global 24350 A=0.53877 G=0.46123
Allele Frequency Aggregator European Sub 18126 A=0.58557 G=0.41443
Allele Frequency Aggregator African Sub 4114 A=0.3690 G=0.6310
Allele Frequency Aggregator Other Sub 1050 A=0.5057 G=0.4943
Allele Frequency Aggregator Latin American 2 Sub 670 A=0.454 G=0.546
Allele Frequency Aggregator Latin American 1 Sub 168 A=0.476 G=0.524
Allele Frequency Aggregator Asian Sub 124 A=0.258 G=0.742
Allele Frequency Aggregator South Asian Sub 98 A=0.41 G=0.59
8.3KJPN JAPANESE Study-wide 16760 A=0.36569 G=0.63431
1000Genomes_30x Global Study-wide 6404 A=0.4208 G=0.5792
1000Genomes_30x African Sub 1786 A=0.3141 G=0.6859
1000Genomes_30x Europe Sub 1266 A=0.5640 G=0.4360
1000Genomes_30x South Asian Sub 1202 A=0.4293 G=0.5707
1000Genomes_30x East Asian Sub 1170 A=0.3504 G=0.6496
1000Genomes_30x American Sub 980 A=0.504 G=0.496
1000Genomes Global Study-wide 5008 A=0.4223 G=0.5777
1000Genomes African Sub 1322 A=0.3230 G=0.6770
1000Genomes East Asian Sub 1008 A=0.3492 G=0.6508
1000Genomes Europe Sub 1006 A=0.5636 G=0.4364
1000Genomes South Asian Sub 978 A=0.425 G=0.575
1000Genomes American Sub 694 A=0.509 G=0.491
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6145 G=0.3855
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5929 G=0.4071
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5925 G=0.4075
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.3275 G=0.6725, T=0.0000
HapMap Global Study-wide 1892 A=0.4059 G=0.5941
HapMap American Sub 770 A=0.481 G=0.519
HapMap African Sub 692 A=0.315 G=0.685
HapMap Asian Sub 254 A=0.339 G=0.661
HapMap Europe Sub 176 A=0.534 G=0.466
Korean Genome Project KOREAN Study-wide 1832 A=0.3504 G=0.6496
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.563 G=0.437
Northern Sweden ACPOP Study-wide 600 A=0.633 G=0.367
SGDP_PRJ Global Study-wide 454 A=0.273 G=0.727
Qatari Global Study-wide 216 A=0.454 G=0.546
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.416 G=0.584
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 50 A=0.40 G=0.60
The Danish reference pan genome Danish Study-wide 40 A=0.62 G=0.38
Siberian Global Study-wide 40 A=0.33 G=0.68
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 16 NC_000016.10:g.66730775A>G
GRCh38.p14 chr 16 NC_000016.10:g.66730775A>T
GRCh37.p13 chr 16 NC_000016.9:g.66764678A>G
GRCh37.p13 chr 16 NC_000016.9:g.66764678A>T
Gene: DYNC1LI2, dynein cytoplasmic 1 light intermediate chain 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DYNC1LI2 transcript variant 2 NM_001286157.2:c.699-552T…

NM_001286157.2:c.699-552T>C

 		N/A Intron Variant
DYNC1LI2 transcript variant 3 NM_001323955.2:c.813-552T…

NM_001323955.2:c.813-552T>C

 		N/A Intron Variant
DYNC1LI2 transcript variant 1 NM_006141.3:c.930-552T>C N/A Intron Variant
DYNC1LI2 transcript variant 4 NR_136658.2:n. N/A Intron Variant
DYNC1LI2 transcript variant X1 XM_017023008.2:c.930-552T…

XM_017023008.2:c.930-552T>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.

Not Reported in ClinVar
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 T
GRCh38.p14 chr 16 NC_000016.10:g.66730775= NC_000016.10:g.66730775A>G NC_000016.10:g.66730775A>T
GRCh37.p13 chr 16 NC_000016.9:g.66764678= NC_000016.9:g.66764678A>G NC_000016.9:g.66764678A>T
DYNC1LI2 transcript variant 2 NM_001286157.2:c.699-552= NM_001286157.2:c.699-552T>C NM_001286157.2:c.699-552T>A
DYNC1LI2 transcript variant 3 NM_001323955.2:c.813-552= NM_001323955.2:c.813-552T>C NM_001323955.2:c.813-552T>A
DYNC1LI2 transcript variant 1 NM_006141.2:c.930-552= NM_006141.2:c.930-552T>C NM_006141.2:c.930-552T>A
DYNC1LI2 transcript variant 1 NM_006141.3:c.930-552= NM_006141.3:c.930-552T>C NM_006141.3:c.930-552T>A
DYNC1LI2 transcript variant X1 XM_005255831.1:c.699-552= XM_005255831.1:c.699-552T>C XM_005255831.1:c.699-552T>A
DYNC1LI2 transcript variant X1 XM_017023008.2:c.930-552= XM_017023008.2:c.930-552T>C XM_017023008.2:c.930-552T>A
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#.

84 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 SHGC/AFFYMETRIX ss2980897 Jun 15, 2001 (96)
2 YUSUKE ss4971447 Aug 28, 2002 (108)
3 BCM_SSAHASNP ss10822031 Jul 11, 2003 (116)
4 PERLEGEN ss23757864 Sep 20, 2004 (123)
5 ABI ss43871352 Mar 14, 2006 (126)
6 ILLUMINA ss65741155 Oct 16, 2006 (127)
7 ILLUMINA ss74885623 Dec 06, 2007 (129)
8 HGSV ss84038109 Dec 16, 2007 (130)
9 HUMANGENOME_JCVI ss96690159 Feb 06, 2009 (130)
10 1000GENOMES ss109405569 Jan 24, 2009 (130)
11 1000GENOMES ss115241574 Jan 25, 2009 (130)
12 ILLUMINA-UK ss118289000 Feb 14, 2009 (130)
13 KRIBB_YJKIM ss119414965 Dec 01, 2009 (131)
14 ENSEMBL ss144053957 Dec 01, 2009 (131)
15 GMI ss157473719 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss168371743 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss170022907 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss171372661 Jul 04, 2010 (132)
19 ILLUMINA ss173093516 Jul 04, 2010 (132)
20 BUSHMAN ss201825428 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss207634124 Jul 04, 2010 (132)
22 1000GENOMES ss227298765 Jul 14, 2010 (132)
23 1000GENOMES ss237066212 Jul 15, 2010 (132)
24 1000GENOMES ss243398031 Jul 15, 2010 (132)
25 GMI ss282573274 May 04, 2012 (137)
26 PJP ss291862654 May 09, 2011 (134)
27 ILLUMINA ss537033402 Sep 08, 2015 (146)
28 TISHKOFF ss564966100 Apr 25, 2013 (138)
29 SSMP ss660742903 Apr 25, 2013 (138)
30 EVA-GONL ss992601280 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1080705684 Aug 21, 2014 (142)
32 1000GENOMES ss1356666313 Aug 21, 2014 (142)
33 DDI ss1427879448 Apr 01, 2015 (144)
34 EVA_GENOME_DK ss1577958401 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1634647872 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1677641905 Apr 01, 2015 (144)
37 EVA_DECODE ss1696636047 Apr 01, 2015 (144)
38 EVA_SVP ss1713547052 Apr 01, 2015 (144)
39 HAMMER_LAB ss1808559721 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1936032348 Feb 12, 2016 (147)
41 GENOMED ss1968286762 Jul 19, 2016 (147)
42 JJLAB ss2028802193 Sep 14, 2016 (149)
43 USC_VALOUEV ss2157239616 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2213032302 Dec 20, 2016 (150)
45 SYSTEMSBIOZJU ss2628892367 Nov 08, 2017 (151)
46 GRF ss2701768183 Nov 08, 2017 (151)
47 GNOMAD ss2944204479 Nov 08, 2017 (151)
48 SWEGEN ss3014683200 Nov 08, 2017 (151)
49 BIOINF_KMB_FNS_UNIBA ss3028219470 Nov 08, 2017 (151)
50 CSHL ss3351500221 Nov 08, 2017 (151)
51 ILLUMINA ss3627547497 Oct 12, 2018 (152)
52 ILLUMINA ss3638130944 Oct 12, 2018 (152)
53 ILLUMINA ss3643111679 Oct 12, 2018 (152)
54 URBANLAB ss3650532081 Oct 12, 2018 (152)
55 EGCUT_WGS ss3681666746 Jul 13, 2019 (153)
56 EVA_DECODE ss3699473370 Jul 13, 2019 (153)
57 ACPOP ss3741603742 Jul 13, 2019 (153)
58 EVA ss3754067463 Jul 13, 2019 (153)
59 PACBIO ss3788068455 Jul 13, 2019 (153)
60 PACBIO ss3793046752 Jul 13, 2019 (153)
61 PACBIO ss3797931795 Jul 13, 2019 (153)
62 KHV_HUMAN_GENOMES ss3819351590 Jul 13, 2019 (153)
63 EVA ss3834623366 Apr 27, 2020 (154)
64 EVA ss3840917286 Apr 27, 2020 (154)
65 EVA ss3846409572 Apr 27, 2020 (154)
66 SGDP_PRJ ss3884660005 Apr 27, 2020 (154)
67 KRGDB ss3934167734 Apr 27, 2020 (154)
68 KOGIC ss3977792108 Apr 27, 2020 (154)
69 EVA ss3985763109 Apr 26, 2021 (155)
70 EVA ss4017741407 Apr 26, 2021 (155)
71 TOPMED ss5019077339 Apr 26, 2021 (155)
72 TOMMO_GENOMICS ss5220053121 Apr 26, 2021 (155)
73 1000G_HIGH_COVERAGE ss5301328255 Oct 16, 2022 (156)
74 EVA ss5424395168 Oct 16, 2022 (156)
75 HUGCELL_USP ss5494645363 Oct 16, 2022 (156)
76 EVA ss5511643999 Oct 16, 2022 (156)
77 1000G_HIGH_COVERAGE ss5604172947 Oct 16, 2022 (156)
78 SANFORD_IMAGENETICS ss5659112884 Oct 16, 2022 (156)
79 TOMMO_GENOMICS ss5775198716 Oct 16, 2022 (156)
80 YY_MCH ss5816064935 Oct 16, 2022 (156)
81 EVA ss5846552815 Oct 16, 2022 (156)
82 EVA ss5851611901 Oct 16, 2022 (156)
83 EVA ss5899523454 Oct 16, 2022 (156)
84 EVA ss5950512395 Oct 16, 2022 (156)
85 1000Genomes NC_000016.9 - 66764678 Oct 12, 2018 (152)
86 1000Genomes_30x NC_000016.10 - 66730775 Oct 16, 2022 (156)
87 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 66764678 Oct 12, 2018 (152)
88 Genetic variation in the Estonian population NC_000016.9 - 66764678 Oct 12, 2018 (152)
89 The Danish reference pan genome NC_000016.9 - 66764678 Apr 27, 2020 (154)
90 gnomAD - Genomes NC_000016.10 - 66730775 Apr 26, 2021 (155)
91 Genome of the Netherlands Release 5 NC_000016.9 - 66764678 Apr 27, 2020 (154)
92 HapMap NC_000016.10 - 66730775 Apr 27, 2020 (154)
93 KOREAN population from KRGDB NC_000016.9 - 66764678 Apr 27, 2020 (154)
94 Korean Genome Project NC_000016.10 - 66730775 Apr 27, 2020 (154)
95 Northern Sweden NC_000016.9 - 66764678 Jul 13, 2019 (153)
96 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000016.9 - 66764678 Apr 26, 2021 (155)
97 Qatari NC_000016.9 - 66764678 Apr 27, 2020 (154)
98 SGDP_PRJ NC_000016.9 - 66764678 Apr 27, 2020 (154)
99 Siberian NC_000016.9 - 66764678 Apr 27, 2020 (154)
100 8.3KJPN NC_000016.9 - 66764678 Apr 26, 2021 (155)
101 14KJPN NC_000016.10 - 66730775 Oct 16, 2022 (156)
102 TopMed NC_000016.10 - 66730775 Apr 26, 2021 (155)
103 UK 10K study - Twins NC_000016.9 - 66764678 Oct 12, 2018 (152)
104 A Vietnamese Genetic Variation Database NC_000016.9 - 66764678 Jul 13, 2019 (153)
105 ALFA NC_000016.10 - 66730775 Apr 26, 2021 (155)
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)
rs3785091 Oct 09, 2002 (108)
rs61090498 May 26, 2008 (130)
rs386556217 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84038109, ss109405569, ss115241574, ss118289000, ss168371743, ss170022907, ss171372661, ss201825428, ss207634124, ss282573274, ss291862654, ss1696636047, ss1713547052, ss3643111679 NC_000016.8:65322178:A:G NC_000016.10:66730774:A:G (self)
69844207, 38746956, 27404994, 4168981, 17278570, 41345128, 14888607, 989036, 18074270, 36676985, 9755970, 78022428, 38746956, 8595758, ss227298765, ss237066212, ss243398031, ss537033402, ss564966100, ss660742903, ss992601280, ss1080705684, ss1356666313, ss1427879448, ss1577958401, ss1634647872, ss1677641905, ss1808559721, ss1936032348, ss1968286762, ss2028802193, ss2157239616, ss2628892367, ss2701768183, ss2944204479, ss3014683200, ss3351500221, ss3627547497, ss3638130944, ss3681666746, ss3741603742, ss3754067463, ss3788068455, ss3793046752, ss3797931795, ss3834623366, ss3840917286, ss3884660005, ss3934167734, ss3985763109, ss4017741407, ss5220053121, ss5424395168, ss5511643999, ss5659112884, ss5846552815, ss5950512395 NC_000016.9:66764677:A:G NC_000016.10:66730774:A:G (self)
91698882, 492640217, 1403038, 34170109, 109035820, 234623000, 957313303, ss2213032302, ss3028219470, ss3650532081, ss3699473370, ss3819351590, ss3846409572, ss3977792108, ss5019077339, ss5301328255, ss5494645363, ss5604172947, ss5775198716, ss5816064935, ss5851611901, ss5899523454 NC_000016.10:66730774:A:G NC_000016.10:66730774:A:G (self)
ss10822031 NT_010498.13:15486235:A:G NC_000016.10:66730774:A:G (self)
ss2980897, ss4971447, ss23757864, ss43871352, ss65741155, ss74885623, ss96690159, ss119414965, ss144053957, ss157473719, ss173093516 NT_010498.15:20378876:A:G NC_000016.10:66730774:A:G (self)
41345128, ss3934167734 NC_000016.9:66764677:A:T NC_000016.10:66730774:A:T (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 rs2068942

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