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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.

rs1591384

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:70626188 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.077487 (20510/264690, TOPMED)
G=0.073059 (10242/140188, GnomAD)
G=0.00004 (1/28258, 14KJPN) (+ 15 more)
G=0.03923 (741/18890, ALFA)
G=0.00000 (0/16760, 8.3KJPN)
G=0.0806 (516/6404, 1000G_30x)
G=0.0783 (392/5008, 1000G)
G=0.0000 (0/3854, ALSPAC)
G=0.0003 (1/3708, TWINSUK)
G=0.0000 (0/2930, KOREAN)
T=0.0000 (0/2930, KOREAN)
G=0.0000 (0/1832, Korea1K)
G=0.000 (0/600, NorthernSweden)
G=0.029 (16/558, SGDP_PRJ)
G=0.056 (12/216, Qatari)
G=0.000 (0/214, Vietnamese)
G=0.00 (0/56, Siberian)
G=0.00 (0/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 18890 G=0.03923 A=0.96077
European Sub 14286 G=0.00098 A=0.99902
African Sub 2946 G=0.2254 A=0.7746
African Others Sub 114 G=0.272 A=0.728
African American Sub 2832 G=0.2235 A=0.7765
Asian Sub 112 G=0.000 A=1.000
East Asian Sub 86 G=0.00 A=1.00
Other Asian Sub 26 G=0.00 A=1.00
Latin American 1 Sub 146 G=0.089 A=0.911
Latin American 2 Sub 610 G=0.010 A=0.990
South Asian Sub 98 G=0.00 A=1.00
Other Sub 692 G=0.064 A=0.936


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=0.077487 A=0.922513
gnomAD - Genomes Global Study-wide 140188 G=0.073059 A=0.926941
gnomAD - Genomes European Sub 75964 G=0.00057 A=0.99943
gnomAD - Genomes African Sub 41964 G=0.23332 A=0.76668
gnomAD - Genomes American Sub 13652 G=0.02183 A=0.97817
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.0000 A=1.0000
gnomAD - Genomes East Asian Sub 3134 G=0.0000 A=1.0000
gnomAD - Genomes Other Sub 2150 G=0.0512 A=0.9488
14KJPN JAPANESE Study-wide 28258 G=0.00004 A=0.99996
Allele Frequency Aggregator Total Global 18890 G=0.03923 A=0.96077
Allele Frequency Aggregator European Sub 14286 G=0.00098 A=0.99902
Allele Frequency Aggregator African Sub 2946 G=0.2254 A=0.7746
Allele Frequency Aggregator Other Sub 692 G=0.064 A=0.936
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.010 A=0.990
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.089 A=0.911
Allele Frequency Aggregator Asian Sub 112 G=0.000 A=1.000
Allele Frequency Aggregator South Asian Sub 98 G=0.00 A=1.00
8.3KJPN JAPANESE Study-wide 16760 G=0.00000 A=1.00000
1000Genomes_30x Global Study-wide 6404 G=0.0806 A=0.9194
1000Genomes_30x African Sub 1786 G=0.2738 A=0.7262
1000Genomes_30x Europe Sub 1266 G=0.0055 A=0.9945
1000Genomes_30x South Asian Sub 1202 G=0.0000 A=1.0000
1000Genomes_30x East Asian Sub 1170 G=0.0000 A=1.0000
1000Genomes_30x American Sub 980 G=0.020 A=0.980
1000Genomes Global Study-wide 5008 G=0.0783 A=0.9217
1000Genomes African Sub 1322 G=0.2821 A=0.7179
1000Genomes East Asian Sub 1008 G=0.0000 A=1.0000
1000Genomes Europe Sub 1006 G=0.0040 A=0.9960
1000Genomes South Asian Sub 978 G=0.000 A=1.000
1000Genomes American Sub 694 G=0.022 A=0.978
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.0000 A=1.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.0003 A=0.9997
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0000 A=1.0000, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.0000 A=1.0000
Northern Sweden ACPOP Study-wide 600 G=0.000 A=1.000
SGDP_PRJ Global Study-wide 558 G=0.029 A=0.971
Qatari Global Study-wide 216 G=0.056 A=0.944
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.000 A=1.000
Siberian Global Study-wide 56 G=0.00 A=1.00
The Danish reference pan genome Danish Study-wide 40 G=0.00 A=1.00
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 1 NC_000001.11:g.70626188G>A
GRCh38.p14 chr 1 NC_000001.11:g.70626188G>T
GRCh37.p13 chr 1 NC_000001.10:g.71091871G>A
GRCh37.p13 chr 1 NC_000001.10:g.71091871G>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
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 T
GRCh38.p14 chr 1 NC_000001.11:g.70626188= NC_000001.11:g.70626188G>A NC_000001.11:g.70626188G>T
GRCh37.p13 chr 1 NC_000001.10:g.71091871= NC_000001.10:g.71091871G>A NC_000001.10:g.71091871G>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#.

75 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2216105 Oct 24, 2000 (88)
2 SC_JCM ss5609979 Feb 20, 2003 (117)
3 WI_SSAHASNP ss11405258 Jul 11, 2003 (116)
4 CSHL-HAPMAP ss16420664 Feb 27, 2004 (120)
5 SSAHASNP ss20587880 Apr 05, 2004 (121)
6 ABI ss41055148 Mar 14, 2006 (126)
7 HGSV ss82384966 Dec 15, 2007 (130)
8 BCMHGSC_JDW ss87526073 Mar 23, 2008 (129)
9 HUMANGENOME_JCVI ss97945947 Feb 05, 2009 (130)
10 BGI ss106574837 Feb 05, 2009 (130)
11 1000GENOMES ss108295040 Jan 23, 2009 (130)
12 1000GENOMES ss110612994 Jan 25, 2009 (130)
13 ILLUMINA-UK ss118787913 Dec 01, 2009 (131)
14 ENSEMBL ss137994527 Dec 01, 2009 (131)
15 ENSEMBL ss138906978 Dec 01, 2009 (131)
16 GMI ss155153682 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss163496030 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss164514713 Jul 04, 2010 (132)
19 BUSHMAN ss198597685 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss205187254 Jul 04, 2010 (132)
21 1000GENOMES ss218444588 Jul 14, 2010 (132)
22 1000GENOMES ss230578317 Jul 14, 2010 (132)
23 1000GENOMES ss238264032 Jul 15, 2010 (132)
24 BL ss253171914 May 09, 2011 (134)
25 GMI ss275869143 May 04, 2012 (137)
26 GMI ss284069610 Apr 25, 2013 (138)
27 PJP ss290533515 May 09, 2011 (134)
28 TISHKOFF ss554230933 Apr 25, 2013 (138)
29 SSMP ss648116196 Apr 25, 2013 (138)
30 JMKIDD_LAB ss1067973637 Aug 21, 2014 (142)
31 1000GENOMES ss1291323348 Aug 21, 2014 (142)
32 DDI ss1425845969 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1574135859 Apr 01, 2015 (144)
34 EVA_DECODE ss1584643955 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1600402915 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1643396948 Apr 01, 2015 (144)
37 HAMMER_LAB ss1794529760 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1918480160 Feb 12, 2016 (147)
39 GENOMED ss1966772745 Jul 19, 2016 (147)
40 JJLAB ss2019757636 Sep 14, 2016 (149)
41 USC_VALOUEV ss2147774139 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2163404010 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2624392030 Nov 08, 2017 (151)
44 GRF ss2697693278 Nov 08, 2017 (151)
45 GNOMAD ss2756370377 Nov 08, 2017 (151)
46 SWEGEN ss2986988848 Nov 08, 2017 (151)
47 BIOINF_KMB_FNS_UNIBA ss3023640929 Nov 08, 2017 (151)
48 CSHL ss3343504301 Nov 08, 2017 (151)
49 URBANLAB ss3646686600 Oct 11, 2018 (152)
50 EVA_DECODE ss3686983340 Jul 12, 2019 (153)
51 ACPOP ss3727141581 Jul 12, 2019 (153)
52 EVA ss3746336535 Jul 12, 2019 (153)
53 PACBIO ss3783439997 Jul 12, 2019 (153)
54 PACBIO ss3789093501 Jul 12, 2019 (153)
55 PACBIO ss3793966246 Jul 12, 2019 (153)
56 KHV_HUMAN_GENOMES ss3799342783 Jul 12, 2019 (153)
57 EVA ss3826227586 Apr 25, 2020 (154)
58 EVA ss3836501428 Apr 25, 2020 (154)
59 EVA ss3841908121 Apr 25, 2020 (154)
60 SGDP_PRJ ss3849071836 Apr 25, 2020 (154)
61 KRGDB ss3894105395 Apr 25, 2020 (154)
62 KOGIC ss3944721954 Apr 25, 2020 (154)
63 TOPMED ss4453566611 Apr 25, 2021 (155)
64 TOMMO_GENOMICS ss5144432045 Apr 25, 2021 (155)
65 1000G_HIGH_COVERAGE ss5242642934 Oct 12, 2022 (156)
66 EVA ss5319417682 Oct 12, 2022 (156)
67 HUGCELL_USP ss5443669277 Oct 12, 2022 (156)
68 1000G_HIGH_COVERAGE ss5515111492 Oct 12, 2022 (156)
69 SANFORD_IMAGENETICS ss5625743448 Oct 12, 2022 (156)
70 TOMMO_GENOMICS ss5669341943 Oct 12, 2022 (156)
71 YY_MCH ss5800689804 Oct 12, 2022 (156)
72 EVA ss5832104554 Oct 12, 2022 (156)
73 EVA ss5848951975 Oct 12, 2022 (156)
74 EVA ss5908692086 Oct 12, 2022 (156)
75 EVA ss5937583820 Oct 12, 2022 (156)
76 1000Genomes NC_000001.10 - 71091871 Oct 11, 2018 (152)
77 1000Genomes_30x NC_000001.11 - 70626188 Oct 12, 2022 (156)
78 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 71091871 Oct 11, 2018 (152)
79 The Danish reference pan genome NC_000001.10 - 71091871 Apr 25, 2020 (154)
80 gnomAD - Genomes NC_000001.11 - 70626188 Apr 25, 2021 (155)
81 KOREAN population from KRGDB NC_000001.10 - 71091871 Apr 25, 2020 (154)
82 Korean Genome Project NC_000001.11 - 70626188 Apr 25, 2020 (154)
83 Northern Sweden NC_000001.10 - 71091871 Jul 12, 2019 (153)
84 Qatari NC_000001.10 - 71091871 Apr 25, 2020 (154)
85 SGDP_PRJ NC_000001.10 - 71091871 Apr 25, 2020 (154)
86 Siberian NC_000001.10 - 71091871 Apr 25, 2020 (154)
87 8.3KJPN NC_000001.10 - 71091871 Apr 25, 2021 (155)
88 14KJPN NC_000001.11 - 70626188 Oct 12, 2022 (156)
89 TopMed NC_000001.11 - 70626188 Apr 25, 2021 (155)
90 UK 10K study - Twins NC_000001.10 - 71091871 Oct 11, 2018 (152)
91 A Vietnamese Genetic Variation Database NC_000001.10 - 71091871 Jul 12, 2019 (153)
92 ALFA NC_000001.11 - 70626188 Apr 25, 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)
rs4253876 Aug 27, 2003 (117)
rs60005494 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss82384966 NC_000001.8:70803891:G:A NC_000001.11:70626187:G:A (self)
ss87526073, ss108295040, ss110612994, ss118787913, ss163496030, ss164514713, ss198597685, ss205187254, ss253171914, ss275869143, ss284069610, ss290533515, ss1584643955 NC_000001.9:70864458:G:A NC_000001.11:70626187:G:A (self)
2057260, 1128233, 1546657, 1282789, 426446, 522090, 1088816, 290493, 2401352, 1128233, 236790, ss218444588, ss230578317, ss238264032, ss554230933, ss648116196, ss1067973637, ss1291323348, ss1425845969, ss1574135859, ss1600402915, ss1643396948, ss1794529760, ss1918480160, ss1966772745, ss2019757636, ss2147774139, ss2624392030, ss2697693278, ss2756370377, ss2986988848, ss3343504301, ss3727141581, ss3746336535, ss3783439997, ss3789093501, ss3793966246, ss3826227586, ss3836501428, ss3849071836, ss3894105395, ss5144432045, ss5319417682, ss5625743448, ss5832104554, ss5937583820 NC_000001.10:71091870:G:A NC_000001.11:70626187:G:A (self)
2637427, 14517836, 1099955, 3179047, 17172946, 4128821364, ss2163404010, ss3023640929, ss3646686600, ss3686983340, ss3799342783, ss3841908121, ss3944721954, ss4453566611, ss5242642934, ss5443669277, ss5515111492, ss5669341943, ss5800689804, ss5848951975, ss5908692086 NC_000001.11:70626187:G:A NC_000001.11:70626187:G:A (self)
ss11405258 NT_004464.15:1537161:G:A NC_000001.11:70626187:G:A (self)
ss16420664, ss20587880 NT_032977.6:32654939:G:A NC_000001.11:70626187:G:A (self)
ss2216105, ss5609979, ss41055148, ss97945947, ss106574837, ss137994527, ss138906978, ss155153682 NT_032977.9:41063788:G:A NC_000001.11:70626187:G:A (self)
1282789, ss3894105395 NC_000001.10:71091870:G:T NC_000001.11:70626187: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 rs1591384

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