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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.

rs1826684

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr4:69450287 (GRCh38.p13) 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 / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.400283 (105951/264690, TOPMED)
A=0.394097 (55105/139826, GnomAD)
A=0.41157 (13386/32524, ALFA) (+ 15 more)
G=0.29535 (4950/16760, 8.3KJPN)
A=0.4704 (2356/5008, 1000G)
A=0.4224 (1628/3854, ALSPAC)
A=0.4315 (1600/3708, TWINSUK)
G=0.3119 (914/2930, KOREAN)
G=0.3231 (592/1832, Korea1K)
A=0.442 (441/998, GoNL)
G=0.480 (363/756, HapMap)
A=0.335 (210/626, Chileans)
G=0.467 (280/600, NorthernSweden)
G=0.319 (123/386, SGDP_PRJ)
A=0.292 (63/216, Qatari)
G=0.190 (41/216, Vietnamese)
G=0.32 (14/44, Siberian)
A=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 4 NC_000004.12:g.69450287G>A
GRCh38.p13 chr 4 NC_000004.12:g.69450287G>C
GRCh38.p13 chr 4 NC_000004.12:g.69450287G>T
GRCh37.p13 chr 4 NC_000004.11:g.70316005G>A
GRCh37.p13 chr 4 NC_000004.11:g.70316005G>C
GRCh37.p13 chr 4 NC_000004.11:g.70316005G>T
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

ALFA Allele Frequency (New)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 32524 G=0.58843 A=0.41157
European Sub 23150 G=0.57555 A=0.42445
African Sub 3780 G=0.6497 A=0.3503
African Others Sub 146 G=0.664 A=0.336
African American Sub 3634 G=0.6491 A=0.3509
Asian Sub 172 G=0.221 A=0.779
East Asian Sub 108 G=0.222 A=0.778
Other Asian Sub 64 G=0.22 A=0.78
Latin American 1 Sub 380 G=0.645 A=0.355
Latin American 2 Sub 3268 G=0.6258 A=0.3742
South Asian Sub 132 G=0.439 A=0.561
Other Sub 1642 G=0.5920 A=0.4080


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=0.599717 A=0.400283
gnomAD - Genomes Global Study-wide 139826 G=0.605903 A=0.394097
gnomAD - Genomes European Sub 75792 G=0.59001 A=0.40999
gnomAD - Genomes African Sub 41906 G=0.65525 A=0.34475
gnomAD - Genomes American Sub 13570 G=0.60987 A=0.39013
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.6498 A=0.3502
gnomAD - Genomes East Asian Sub 3104 G=0.2709 A=0.7291
gnomAD - Genomes Other Sub 2136 G=0.5950 A=0.4050
8.3KJPN JAPANESE Study-wide 16760 G=0.29535 A=0.70465
1000Genomes Global Study-wide 5008 G=0.5296 A=0.4704
1000Genomes African Sub 1322 G=0.6717 A=0.3283
1000Genomes East Asian Sub 1008 G=0.2649 A=0.7351
1000Genomes Europe Sub 1006 G=0.5915 A=0.4085
1000Genomes South Asian Sub 978 G=0.496 A=0.504
1000Genomes American Sub 694 G=0.601 A=0.399
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5776 A=0.4224
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5685 A=0.4315
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.3119 A=0.6881, C=0.0000, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.3231 A=0.6769
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.558 A=0.442
HapMap Global Study-wide 756 G=0.480 A=0.520
HapMap American Sub 388 G=0.549 A=0.451
HapMap Asian Sub 248 G=0.270 A=0.730
HapMap African Sub 120 G=0.692 A=0.308
Chileans Chilean Study-wide 626 G=0.665 A=0.335
Northern Sweden ACPOP Study-wide 600 G=0.467 A=0.533
SGDP_PRJ Global Study-wide 386 G=0.319 A=0.681
Qatari Global Study-wide 216 G=0.708 A=0.292
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.190 A=0.810
Siberian Global Study-wide 44 G=0.32 A=0.68
The Danish reference pan genome Danish Study-wide 40 G=0.62 A=0.38
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 C T
GRCh38.p13 chr 4 NC_000004.12:g.69450287= NC_000004.12:g.69450287G>A NC_000004.12:g.69450287G>C NC_000004.12:g.69450287G>T
GRCh37.p13 chr 4 NC_000004.11:g.70316005= NC_000004.11:g.70316005G>A NC_000004.11:g.70316005G>C NC_000004.11:g.70316005G>T
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#.

71 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2694402 Jan 12, 2001 (92)
2 SC_JCM ss3723954 Sep 28, 2001 (100)
3 WI_SSAHASNP ss11640592 Jul 11, 2003 (116)
4 CSHL-HAPMAP ss20193503 Feb 27, 2004 (120)
5 PERLEGEN ss24378141 Sep 20, 2004 (123)
6 ABI ss42319251 Mar 13, 2006 (126)
7 AFFY ss66289821 Dec 01, 2006 (127)
8 AFFY ss75953525 Dec 06, 2007 (129)
9 HGSV ss80314241 Dec 14, 2007 (130)
10 KRIBB_YJKIM ss81591901 Dec 15, 2007 (130)
11 HGSV ss84506825 Dec 14, 2007 (130)
12 BCMHGSC_JDW ss92630641 Mar 24, 2008 (129)
13 1000GENOMES ss108022370 Jan 22, 2009 (130)
14 1000GENOMES ss109967974 Jan 24, 2009 (130)
15 ILLUMINA-UK ss117034938 Feb 14, 2009 (130)
16 ENSEMBL ss139677558 Dec 01, 2009 (131)
17 ILLUMINA ss152536403 Dec 01, 2009 (131)
18 GMI ss157407300 Dec 01, 2009 (131)
19 ILLUMINA ss159102634 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss162206572 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss163564326 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss166714225 Jul 04, 2010 (132)
23 ILLUMINA ss168870927 Jul 04, 2010 (132)
24 AFFY ss169614444 Jul 04, 2010 (132)
25 1000GENOMES ss220981444 Jul 14, 2010 (132)
26 1000GENOMES ss232433635 Jul 14, 2010 (132)
27 1000GENOMES ss239718218 Jul 15, 2010 (132)
28 GMI ss277764164 May 04, 2012 (137)
29 PJP ss293095096 May 09, 2011 (134)
30 ILLUMINA ss532728273 Sep 08, 2015 (146)
31 TISHKOFF ss557579898 Apr 25, 2013 (138)
32 SSMP ss651389445 Apr 25, 2013 (138)
33 ILLUMINA ss832615430 Jul 13, 2019 (153)
34 EVA-GONL ss980222401 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1071619287 Aug 21, 2014 (142)
36 1000GENOMES ss1310145080 Aug 21, 2014 (142)
37 EVA_GENOME_DK ss1580601320 Apr 01, 2015 (144)
38 EVA_DECODE ss1589721785 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1610289768 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1653283801 Apr 01, 2015 (144)
41 EVA_SVP ss1712678902 Apr 01, 2015 (144)
42 HAMMER_LAB ss1801606988 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1923464404 Feb 12, 2016 (147)
44 GENOMED ss1969767572 Jul 19, 2016 (147)
45 JJLAB ss2022318649 Sep 14, 2016 (149)
46 USC_VALOUEV ss2150445468 Dec 20, 2016 (150)
47 TOPMED ss2431457005 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2625658583 Nov 08, 2017 (151)
49 GRF ss2705917562 Nov 08, 2017 (151)
50 GNOMAD ss2810460566 Nov 08, 2017 (151)
51 SWEGEN ss2994867842 Nov 08, 2017 (151)
52 BIOINF_KMB_FNS_UNIBA ss3024932690 Nov 08, 2017 (151)
53 CSHL ss3345764529 Nov 08, 2017 (151)
54 TOPMED ss3431740344 Nov 08, 2017 (151)
55 ILLUMINA ss3628983744 Oct 12, 2018 (152)
56 ILLUMINA ss3638490788 Oct 12, 2018 (152)
57 EVA_DECODE ss3712248715 Jul 13, 2019 (153)
58 ACPOP ss3731240524 Jul 13, 2019 (153)
59 EVA ss3761920724 Jul 13, 2019 (153)
60 PACBIO ss3784744670 Jul 13, 2019 (153)
61 PACBIO ss3790198342 Jul 13, 2019 (153)
62 PACBIO ss3795073634 Jul 13, 2019 (153)
63 KHV_HUMAN_GENOMES ss3805060434 Jul 13, 2019 (153)
64 EVA ss3828596051 Apr 26, 2020 (154)
65 EVA ss3837738222 Apr 26, 2020 (154)
66 EVA ss3843175239 Apr 26, 2020 (154)
67 SGDP_PRJ ss3859169247 Apr 26, 2020 (154)
68 KRGDB ss3905419174 Apr 26, 2020 (154)
69 KOGIC ss3954363798 Apr 26, 2020 (154)
70 TOPMED ss4617313164 Apr 26, 2021 (155)
71 TOMMO_GENOMICS ss5166162824 Apr 26, 2021 (155)
72 1000Genomes NC_000004.11 - 70316005 Oct 12, 2018 (152)
73 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 70316005 Oct 12, 2018 (152)
74 Chileans NC_000004.11 - 70316005 Apr 26, 2020 (154)
75 The Danish reference pan genome NC_000004.11 - 70316005 Apr 26, 2020 (154)
76 gnomAD - Genomes NC_000004.12 - 69450287 Apr 26, 2021 (155)
77 Genome of the Netherlands Release 5 NC_000004.11 - 70316005 Apr 26, 2020 (154)
78 HapMap NC_000004.12 - 69450287 Apr 26, 2020 (154)
79 KOREAN population from KRGDB NC_000004.11 - 70316005 Apr 26, 2020 (154)
80 Korean Genome Project NC_000004.12 - 69450287 Apr 26, 2020 (154)
81 Northern Sweden NC_000004.11 - 70316005 Jul 13, 2019 (153)
82 Qatari NC_000004.11 - 70316005 Apr 26, 2020 (154)
83 SGDP_PRJ NC_000004.11 - 70316005 Apr 26, 2020 (154)
84 Siberian NC_000004.11 - 70316005 Apr 26, 2020 (154)
85 8.3KJPN NC_000004.11 - 70316005 Apr 26, 2021 (155)
86 TopMed NC_000004.12 - 69450287 Apr 26, 2021 (155)
87 UK 10K study - Twins NC_000004.11 - 70316005 Oct 12, 2018 (152)
88 A Vietnamese Genetic Variation Database NC_000004.11 - 70316005 Jul 13, 2019 (153)
89 ALFA NC_000004.12 - 69450287 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)
rs17670262 Oct 07, 2004 (123)
rs57426780 May 23, 2008 (130)
rs59710310 Feb 26, 2009 (130)
rs386420021 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80314241, ss84506825 NC_000004.9:70496764:G:A NC_000004.12:69450286:G:A (self)
ss92630641, ss108022370, ss109967974, ss117034938, ss162206572, ss163564326, ss166714225, ss277764164, ss293095096, ss1589721785, ss1712678902 NC_000004.10:70350593:G:A NC_000004.12:69450286:G:A (self)
21555046, 11982634, 317920, 6766259, 5291388, 12596568, 4525389, 5506334, 11186227, 2961822, 24132131, 11982634, 2638368, ss220981444, ss232433635, ss239718218, ss532728273, ss557579898, ss651389445, ss832615430, ss980222401, ss1071619287, ss1310145080, ss1580601320, ss1610289768, ss1653283801, ss1801606988, ss1923464404, ss1969767572, ss2022318649, ss2150445468, ss2431457005, ss2625658583, ss2705917562, ss2810460566, ss2994867842, ss3345764529, ss3628983744, ss3638490788, ss3731240524, ss3761920724, ss3784744670, ss3790198342, ss3795073634, ss3828596051, ss3837738222, ss3859169247, ss3905419174, ss5166162824 NC_000004.11:70316004:G:A NC_000004.12:69450286:G:A (self)
152714191, 2632221, 10741799, 284218744, 454690720, 10692519634, ss3024932690, ss3431740344, ss3712248715, ss3805060434, ss3843175239, ss3954363798, ss4617313164 NC_000004.12:69450286:G:A NC_000004.12:69450286:G:A (self)
ss2694402, ss3723954, ss24378141, ss42319251, ss66289821, ss75953525, ss81591901, ss139677558, ss152536403, ss157407300, ss159102634, ss168870927, ss169614444 NT_022778.16:10526671:G:A NC_000004.12:69450286:G:A (self)
ss11640592, ss20193503 NT_077444.2:975152:G:A NC_000004.12:69450286:G:A (self)
12596568, ss3905419174 NC_000004.11:70316004:G:C NC_000004.12:69450286:G:C (self)
12596568, ss3905419174 NC_000004.11:70316004:G:T NC_000004.12:69450286:G: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 rs1826684

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.post596+ae089ad