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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.

rs28361189

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:100351828 (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=0.126884 (33585/264690, TOPMED)
G=0.136288 (20247/148560, GnomAD_exome)
G=0.141845 (19875/140118, GnomAD) (+ 19 more)
G=0.03277 (926/28256, 14KJPN)
G=0.16218 (4521/27876, ALFA)
G=0.03365 (564/16760, 8.3KJPN)
G=0.12421 (2036/16392, ExAC)
G=0.0890 (570/6404, 1000G_30x)
G=0.0897 (449/5008, 1000G)
G=0.2011 (901/4480, Estonian)
G=0.2006 (773/3854, ALSPAC)
G=0.1791 (664/3708, TWINSUK)
G=0.0515 (151/2930, KOREAN)
G=0.0475 (87/1832, Korea1K)
G=0.208 (208/998, GoNL)
G=0.197 (118/600, NorthernSweden)
G=0.084 (45/534, MGP)
G=0.093 (20/216, Qatari)
A=0.44 (39/88, SGDP_PRJ)
G=0.12 (5/40, GENOME_DK)
A=0.50 (7/14, Siberian)
G=0.50 (7/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CDC14A : 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 27876 A=0.83782 G=0.16218
European Sub 20346 A=0.81480 G=0.18520
African Sub 3540 A=0.9263 G=0.0737
African Others Sub 122 A=0.951 G=0.049
African American Sub 3418 A=0.9254 G=0.0746
Asian Sub 168 A=0.964 G=0.036
East Asian Sub 112 A=0.964 G=0.036
Other Asian Sub 56 A=0.96 G=0.04
Latin American 1 Sub 146 A=0.918 G=0.082
Latin American 2 Sub 610 A=0.928 G=0.072
South Asian Sub 98 A=0.93 G=0.07
Other Sub 2968 A=0.8575 G=0.1425


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=0.873116 G=0.126884
gnomAD - Exomes Global Study-wide 148560 A=0.863712 G=0.136288
gnomAD - Exomes European Sub 71562 A=0.80371 G=0.19629
gnomAD - Exomes Asian Sub 33192 A=0.93730 G=0.06270
gnomAD - Exomes American Sub 24418 A=0.93017 G=0.06983
gnomAD - Exomes Ashkenazi Jewish Sub 8352 A=0.8321 G=0.1679
gnomAD - Exomes African Sub 6748 A=0.9412 G=0.0588
gnomAD - Exomes Other Sub 4288 A=0.8566 G=0.1434
gnomAD - Genomes Global Study-wide 140118 A=0.858155 G=0.141845
gnomAD - Genomes European Sub 75862 A=0.80679 G=0.19321
gnomAD - Genomes African Sub 42018 A=0.93289 G=0.06711
gnomAD - Genomes American Sub 13634 A=0.89651 G=0.10349
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.8291 G=0.1709
gnomAD - Genomes East Asian Sub 3130 A=0.9546 G=0.0454
gnomAD - Genomes Other Sub 2150 A=0.8712 G=0.1288
14KJPN JAPANESE Study-wide 28256 A=0.96723 G=0.03277
Allele Frequency Aggregator Total Global 27876 A=0.83782 G=0.16218
Allele Frequency Aggregator European Sub 20346 A=0.81480 G=0.18520
Allele Frequency Aggregator African Sub 3540 A=0.9263 G=0.0737
Allele Frequency Aggregator Other Sub 2968 A=0.8575 G=0.1425
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.928 G=0.072
Allele Frequency Aggregator Asian Sub 168 A=0.964 G=0.036
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.918 G=0.082
Allele Frequency Aggregator South Asian Sub 98 A=0.93 G=0.07
8.3KJPN JAPANESE Study-wide 16760 A=0.96635 G=0.03365
ExAC Global Study-wide 16392 A=0.87579 G=0.12421
ExAC Asian Sub 8110 A=0.9248 G=0.0752
ExAC Europe Sub 6900 A=0.8096 G=0.1904
ExAC African Sub 892 A=0.934 G=0.066
ExAC American Sub 284 A=0.905 G=0.095
ExAC Other Sub 206 A=0.874 G=0.126
1000Genomes_30x Global Study-wide 6404 A=0.9110 G=0.0890
1000Genomes_30x African Sub 1786 A=0.9474 G=0.0526
1000Genomes_30x Europe Sub 1266 A=0.8183 G=0.1817
1000Genomes_30x South Asian Sub 1202 A=0.9226 G=0.0774
1000Genomes_30x East Asian Sub 1170 A=0.9538 G=0.0462
1000Genomes_30x American Sub 980 A=0.899 G=0.101
1000Genomes Global Study-wide 5008 A=0.9103 G=0.0897
1000Genomes African Sub 1322 A=0.9486 G=0.0514
1000Genomes East Asian Sub 1008 A=0.9544 G=0.0456
1000Genomes Europe Sub 1006 A=0.8181 G=0.1819
1000Genomes South Asian Sub 978 A=0.916 G=0.084
1000Genomes American Sub 694 A=0.899 G=0.101
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.7989 G=0.2011
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7994 G=0.2006
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8209 G=0.1791
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.9485 G=0.0515
Korean Genome Project KOREAN Study-wide 1832 A=0.9525 G=0.0475
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.792 G=0.208
Northern Sweden ACPOP Study-wide 600 A=0.803 G=0.197
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.916 G=0.084
Qatari Global Study-wide 216 A=0.907 G=0.093
SGDP_PRJ Global Study-wide 88 A=0.44 G=0.56
The Danish reference pan genome Danish Study-wide 40 A=0.88 G=0.12
Siberian Global Study-wide 14 A=0.50 G=0.50
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.100351828A>G
GRCh37.p13 chr 1 NC_000001.10:g.100817384A>G
CDC14A RefSeqGene (LRG_1418) NG_051602.2:g.11828A>G
Gene: CDC14A, cell division cycle 14A (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CDC14A transcript variant 5 NM_001319211.2:c.-125-193…

NM_001319211.2:c.-125-1934A>G

 		N/A Intron Variant
CDC14A transcript variant 4 NM_001319210.2:c. N/A Genic Upstream Transcript Variant
CDC14A transcript variant 6 NM_001319212.2:c. N/A Genic Upstream Transcript Variant
CDC14A transcript variant 1 NM_003672.4:c. N/A Genic Upstream Transcript Variant
CDC14A transcript variant 2 NM_033312.3:c. N/A Genic Upstream Transcript Variant
CDC14A transcript variant 3 NM_033313.3:c. N/A Genic Upstream Transcript 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
GRCh38.p14 chr 1 NC_000001.11:g.100351828= NC_000001.11:g.100351828A>G
GRCh37.p13 chr 1 NC_000001.10:g.100817384= NC_000001.10:g.100817384A>G
CDC14A RefSeqGene (LRG_1418) NG_051602.2:g.11828= NG_051602.2:g.11828A>G
CDC14A transcript variant 5 NM_001319211.2:c.-125-1934= NM_001319211.2:c.-125-1934A>G
CDC14A transcript variant X1 XM_005271294.1:c.52+20= XM_005271294.1:c.52+20A>G
CDC14A transcript variant X3 XM_005271296.1:c.52+20= XM_005271296.1:c.52+20A>G
CDC14A transcript variant X4 XM_005271297.1:c.-125-1934= XM_005271297.1:c.-125-1934A>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#.

57 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 EGP_SNPS ss35035688 May 24, 2005 (125)
2 SI_EXO ss52065869 Oct 13, 2006 (127)
3 1000GENOMES ss218551481 Jul 14, 2010 (132)
4 1000GENOMES ss230658779 Jul 14, 2010 (132)
5 CLINSEQ_SNP ss491598918 May 04, 2012 (137)
6 TISHKOFF ss554485492 Apr 25, 2013 (138)
7 SSMP ss648257301 Apr 25, 2013 (138)
8 EVA-GONL ss975488800 Aug 21, 2014 (142)
9 JMKIDD_LAB ss1068131292 Aug 21, 2014 (142)
10 1000GENOMES ss1292127071 Aug 21, 2014 (142)
11 EVA_GENOME_DK ss1574274925 Apr 01, 2015 (144)
12 EVA_DECODE ss1584866808 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1600827716 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1643821749 Apr 01, 2015 (144)
15 EVA_EXAC ss1685656443 Apr 01, 2015 (144)
16 EVA_MGP ss1710913574 Apr 01, 2015 (144)
17 WEILL_CORNELL_DGM ss1918687764 Feb 12, 2016 (147)
18 JJLAB ss2019865776 Sep 14, 2016 (149)
19 USC_VALOUEV ss2147884278 Dec 20, 2016 (150)
20 HUMAN_LONGEVITY ss2165073316 Dec 20, 2016 (150)
21 GRF ss2697811471 Nov 08, 2017 (151)
22 GNOMAD ss2731666825 Nov 08, 2017 (151)
23 GNOMAD ss2746381247 Nov 08, 2017 (151)
24 GNOMAD ss2758695153 Nov 08, 2017 (151)
25 SWEGEN ss2987313872 Nov 08, 2017 (151)
26 BIOINF_KMB_FNS_UNIBA ss3023696126 Nov 08, 2017 (151)
27 CSHL ss3343597978 Nov 08, 2017 (151)
28 OMUKHERJEE_ADBS ss3646233801 Oct 11, 2018 (152)
29 EGCUT_WGS ss3655399558 Jul 12, 2019 (153)
30 EVA_DECODE ss3687377311 Jul 12, 2019 (153)
31 ACPOP ss3727318782 Jul 12, 2019 (153)
32 EVA ss3746579816 Jul 12, 2019 (153)
33 KHV_HUMAN_GENOMES ss3799580638 Jul 12, 2019 (153)
34 EVA ss3825570320 Apr 25, 2020 (154)
35 EVA ss3826329400 Apr 25, 2020 (154)
36 SGDP_PRJ ss3849487736 Apr 25, 2020 (154)
37 KRGDB ss3894566979 Apr 25, 2020 (154)
38 KOGIC ss3945100761 Apr 25, 2020 (154)
39 FSA-LAB ss3983938616 Apr 25, 2021 (155)
40 FSA-LAB ss3983938617 Apr 25, 2021 (155)
41 EVA ss3986128925 Apr 25, 2021 (155)
42 TOPMED ss4460877749 Apr 25, 2021 (155)
43 TOMMO_GENOMICS ss5145336079 Apr 25, 2021 (155)
44 1000G_HIGH_COVERAGE ss5243338690 Oct 12, 2022 (156)
45 EVA ss5320704233 Oct 12, 2022 (156)
46 HUGCELL_USP ss5444289908 Oct 12, 2022 (156)
47 1000G_HIGH_COVERAGE ss5516189839 Oct 12, 2022 (156)
48 EVA ss5623994951 Oct 12, 2022 (156)
49 SANFORD_IMAGENETICS ss5626141557 Oct 12, 2022 (156)
50 TOMMO_GENOMICS ss5670502279 Oct 12, 2022 (156)
51 EVA ss5800083520 Oct 12, 2022 (156)
52 YY_MCH ss5800863963 Oct 12, 2022 (156)
53 EVA ss5832379045 Oct 12, 2022 (156)
54 EVA ss5848266330 Oct 12, 2022 (156)
55 EVA ss5849035563 Oct 12, 2022 (156)
56 EVA ss5909493302 Oct 12, 2022 (156)
57 EVA ss5938003265 Oct 12, 2022 (156)
58 1000Genomes NC_000001.10 - 100817384 Oct 11, 2018 (152)
59 1000Genomes_30x NC_000001.11 - 100351828 Oct 12, 2022 (156)
60 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 100817384 Oct 11, 2018 (152)
61 Genetic variation in the Estonian population NC_000001.10 - 100817384 Oct 11, 2018 (152)
62 ExAC NC_000001.10 - 100817384 Oct 11, 2018 (152)
63 The Danish reference pan genome NC_000001.10 - 100817384 Apr 25, 2020 (154)
64 gnomAD - Genomes NC_000001.11 - 100351828 Apr 25, 2021 (155)
65 gnomAD - Exomes NC_000001.10 - 100817384 Jul 12, 2019 (153)
66 Genome of the Netherlands Release 5 NC_000001.10 - 100817384 Apr 25, 2020 (154)
67 KOREAN population from KRGDB NC_000001.10 - 100817384 Apr 25, 2020 (154)
68 Korean Genome Project NC_000001.11 - 100351828 Apr 25, 2020 (154)
69 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 100817384 Apr 25, 2020 (154)
70 Northern Sweden NC_000001.10 - 100817384 Jul 12, 2019 (153)
71 Qatari NC_000001.10 - 100817384 Apr 25, 2020 (154)
72 SGDP_PRJ NC_000001.10 - 100817384 Apr 25, 2020 (154)
73 Siberian NC_000001.10 - 100817384 Apr 25, 2020 (154)
74 8.3KJPN NC_000001.10 - 100817384 Apr 25, 2021 (155)
75 14KJPN NC_000001.11 - 100351828 Oct 12, 2022 (156)
76 TopMed NC_000001.11 - 100351828 Apr 25, 2021 (155)
77 UK 10K study - Twins NC_000001.10 - 100817384 Oct 11, 2018 (152)
78 ALFA NC_000001.11 - 100351828 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491598918, ss1584866808 NC_000001.9:100589971:A:G NC_000001.11:100351827:A:G (self)
2891496, 1595871, 1137806, 4863068, 1630913, 688936, 692733, 1744373, 30326, 603647, 729694, 1504716, 400632, 3305386, 1595871, ss218551481, ss230658779, ss554485492, ss648257301, ss975488800, ss1068131292, ss1292127071, ss1574274925, ss1600827716, ss1643821749, ss1685656443, ss1710913574, ss1918687764, ss2019865776, ss2147884278, ss2697811471, ss2731666825, ss2746381247, ss2758695153, ss2987313872, ss3343597978, ss3646233801, ss3655399558, ss3727318782, ss3746579816, ss3825570320, ss3826329400, ss3849487736, ss3894566979, ss3983938616, ss3983938617, ss3986128925, ss5145336079, ss5320704233, ss5623994951, ss5626141557, ss5800083520, ss5832379045, ss5848266330, ss5938003265 NC_000001.10:100817383:A:G NC_000001.11:100351827:A:G (self)
3715774, 20444424, 1478762, 4339383, 24484084, 434333633, ss2165073316, ss3023696126, ss3687377311, ss3799580638, ss3945100761, ss4460877749, ss5243338690, ss5444289908, ss5516189839, ss5670502279, ss5800863963, ss5849035563, ss5909493302 NC_000001.11:100351827:A:G NC_000001.11:100351827:A:G (self)
ss52065869 NT_032977.7:54636776:A:G NC_000001.11:100351827:A:G (self)
ss35035688 NT_032977.9:70789301:A:G NC_000001.11:100351827: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 rs28361189

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