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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.

rs60263736

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:90339 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.043065 (11399/264690, TOPMED)
A=0.044369 (6211/139984, GnomAD)
A=0.04968 (3910/78700, PAGE_STUDY) (+ 14 more)
A=0.03665 (699/19072, ALFA)
A=0.0458 (293/6404, 1000G_30x)
A=0.0453 (227/5008, 1000G)
A=0.0402 (180/4480, Estonian)
A=0.0218 (84/3854, ALSPAC)
A=0.0170 (63/3708, TWINSUK)
A=0.0003 (1/2922, KOREAN)
A=0.021 (21/998, GoNL)
A=0.025 (15/600, NorthernSweden)
A=0.042 (9/216, Qatari)
G=0.50 (13/26, SGDP_PRJ)
A=0.50 (13/26, SGDP_PRJ)
G=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DEFB125 : 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 19072 G=0.96335 A=0.03665
European Sub 14364 G=0.97250 A=0.02750
African Sub 2954 G=0.9133 A=0.0867
African Others Sub 114 G=0.860 A=0.140
African American Sub 2840 G=0.9155 A=0.0845
Asian Sub 146 G=0.993 A=0.007
East Asian Sub 120 G=0.992 A=0.008
Other Asian Sub 26 G=1.00 A=0.00
Latin American 1 Sub 146 G=0.973 A=0.027
Latin American 2 Sub 610 G=0.989 A=0.011
South Asian Sub 104 G=0.942 A=0.058
Other Sub 748 G=0.960 A=0.040


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=0.956935 A=0.043065
gnomAD - Genomes Global Study-wide 139984 G=0.955631 A=0.044369
gnomAD - Genomes European Sub 75842 G=0.97395 A=0.02605
gnomAD - Genomes African Sub 41906 G=0.91018 A=0.08982
gnomAD - Genomes American Sub 13640 G=0.97867 A=0.02133
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9732 A=0.0268
gnomAD - Genomes East Asian Sub 3122 G=0.9997 A=0.0003
gnomAD - Genomes Other Sub 2152 G=0.9582 A=0.0418
The PAGE Study Global Study-wide 78700 G=0.95032 A=0.04968
The PAGE Study AfricanAmerican Sub 32514 G=0.91124 A=0.08876
The PAGE Study Mexican Sub 10810 G=0.98326 A=0.01674
The PAGE Study Asian Sub 8318 G=0.9993 A=0.0007
The PAGE Study PuertoRican Sub 7918 G=0.9598 A=0.0402
The PAGE Study NativeHawaiian Sub 4534 G=0.9921 A=0.0079
The PAGE Study Cuban Sub 4230 G=0.9631 A=0.0369
The PAGE Study Dominican Sub 3828 G=0.9598 A=0.0402
The PAGE Study CentralAmerican Sub 2450 G=0.9739 A=0.0261
The PAGE Study SouthAmerican Sub 1982 G=0.9823 A=0.0177
The PAGE Study NativeAmerican Sub 1260 G=0.9754 A=0.0246
The PAGE Study SouthAsian Sub 856 G=0.950 A=0.050
Allele Frequency Aggregator Total Global 19072 G=0.96335 A=0.03665
Allele Frequency Aggregator European Sub 14364 G=0.97250 A=0.02750
Allele Frequency Aggregator African Sub 2954 G=0.9133 A=0.0867
Allele Frequency Aggregator Other Sub 748 G=0.960 A=0.040
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.989 A=0.011
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.973 A=0.027
Allele Frequency Aggregator Asian Sub 146 G=0.993 A=0.007
Allele Frequency Aggregator South Asian Sub 104 G=0.942 A=0.058
1000Genomes_30x Global Study-wide 6404 G=0.9542 A=0.0458
1000Genomes_30x African Sub 1786 G=0.9015 A=0.0985
1000Genomes_30x Europe Sub 1266 G=0.9858 A=0.0142
1000Genomes_30x South Asian Sub 1202 G=0.9376 A=0.0624
1000Genomes_30x East Asian Sub 1170 G=0.9991 A=0.0009
1000Genomes_30x American Sub 980 G=0.977 A=0.023
1000Genomes Global Study-wide 5008 G=0.9547 A=0.0453
1000Genomes African Sub 1322 G=0.9039 A=0.0961
1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010
1000Genomes Europe Sub 1006 G=0.9861 A=0.0139
1000Genomes South Asian Sub 978 G=0.930 A=0.070
1000Genomes American Sub 694 G=0.976 A=0.024
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9598 A=0.0402
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9782 A=0.0218
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9830 A=0.0170
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9997 A=0.0003
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.979 A=0.021
Northern Sweden ACPOP Study-wide 600 G=0.975 A=0.025
Qatari Global Study-wide 216 G=0.958 A=0.042
SGDP_PRJ Global Study-wide 26 G=0.50 A=0.50
Siberian Global Study-wide 2 G=0.5 A=0.5
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 20 NC_000020.11:g.90339G>A
GRCh37.p13 chr 20 NC_000020.10:g.70980G>A
Gene: DEFB125, defensin beta 125 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DEFB125 transcript NM_153325.4:c.58+2572G>A 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 G= A
GRCh38.p14 chr 20 NC_000020.11:g.90339= NC_000020.11:g.90339G>A
GRCh37.p13 chr 20 NC_000020.10:g.70980= NC_000020.10:g.70980G>A
DEFB125 transcript NM_153325.2:c.58+2572= NM_153325.2:c.58+2572G>A
DEFB125 transcript NM_153325.4:c.58+2572= NM_153325.4:c.58+2572G>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#.

49 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss80897100 Dec 15, 2007 (129)
2 1000GENOMES ss111581050 Jan 25, 2009 (130)
3 ILLUMINA-UK ss117452063 Feb 14, 2009 (130)
4 COMPLETE_GENOMICS ss167637421 Jul 04, 2010 (132)
5 1000GENOMES ss228210657 Jul 14, 2010 (132)
6 1000GENOMES ss237729946 Jul 15, 2010 (132)
7 TISHKOFF ss566082474 Apr 25, 2013 (138)
8 SSMP ss661953395 Apr 25, 2013 (138)
9 EVA-GONL ss994456738 Aug 21, 2014 (142)
10 JMKIDD_LAB ss1082009541 Aug 21, 2014 (142)
11 1000GENOMES ss1363765926 Aug 21, 2014 (142)
12 EVA_UK10K_ALSPAC ss1638249184 Apr 01, 2015 (144)
13 EVA_UK10K_TWINSUK ss1681243217 Apr 01, 2015 (144)
14 EVA_DECODE ss1698510296 Apr 01, 2015 (144)
15 WEILL_CORNELL_DGM ss1937965368 Feb 12, 2016 (147)
16 ILLUMINA ss1959890065 Feb 12, 2016 (147)
17 JJLAB ss2029757255 Sep 14, 2016 (149)
18 USC_VALOUEV ss2158311825 Dec 20, 2016 (150)
19 HUMAN_LONGEVITY ss2240713445 Dec 20, 2016 (150)
20 GNOMAD ss2964602479 Nov 08, 2017 (151)
21 SWEGEN ss3017743830 Nov 08, 2017 (151)
22 ILLUMINA ss3022092070 Nov 08, 2017 (151)
23 CSHL ss3352380178 Nov 08, 2017 (151)
24 ILLUMINA ss3652545523 Oct 12, 2018 (152)
25 EGCUT_WGS ss3684456459 Jul 13, 2019 (153)
26 EVA_DECODE ss3706405196 Jul 13, 2019 (153)
27 ILLUMINA ss3725892196 Jul 13, 2019 (153)
28 ACPOP ss3743178883 Jul 13, 2019 (153)
29 EVA ss3758326088 Jul 13, 2019 (153)
30 PAGE_CC ss3772029924 Jul 13, 2019 (153)
31 KHV_HUMAN_GENOMES ss3821499020 Jul 13, 2019 (153)
32 EVA ss3835544943 Apr 27, 2020 (154)
33 EVA ss3841395546 Apr 27, 2020 (154)
34 EVA ss3846902810 Apr 27, 2020 (154)
35 SGDP_PRJ ss3888570316 Apr 27, 2020 (154)
36 KRGDB ss3938747025 Apr 27, 2020 (154)
37 TOPMED ss5079735267 Apr 27, 2021 (155)
38 EVA ss5237600385 Apr 27, 2021 (155)
39 1000G_HIGH_COVERAGE ss5307820411 Oct 13, 2022 (156)
40 EVA ss5435783119 Oct 13, 2022 (156)
41 HUGCELL_USP ss5500245837 Oct 13, 2022 (156)
42 1000G_HIGH_COVERAGE ss5613776802 Oct 13, 2022 (156)
43 SANFORD_IMAGENETICS ss5624478031 Oct 13, 2022 (156)
44 SANFORD_IMAGENETICS ss5662711382 Oct 13, 2022 (156)
45 EVA ss5845337225 Oct 13, 2022 (156)
46 EVA ss5847500473 Oct 13, 2022 (156)
47 EVA ss5922371532 Oct 13, 2022 (156)
48 EVA ss5957607007 Oct 13, 2022 (156)
49 EVA ss5979607202 Oct 13, 2022 (156)
50 1000Genomes NC_000020.10 - 70980 Oct 12, 2018 (152)
51 1000Genomes_30x NC_000020.11 - 90339 Oct 13, 2022 (156)
52 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 70980 Oct 12, 2018 (152)
53 Genetic variation in the Estonian population NC_000020.10 - 70980 Oct 12, 2018 (152)
54 gnomAD - Genomes NC_000020.11 - 90339 Apr 27, 2021 (155)
55 Genome of the Netherlands Release 5 NC_000020.10 - 70980 Apr 27, 2020 (154)
56 KOREAN population from KRGDB NC_000020.10 - 70980 Apr 27, 2020 (154)
57 Northern Sweden NC_000020.10 - 70980 Jul 13, 2019 (153)
58 The PAGE Study NC_000020.11 - 90339 Jul 13, 2019 (153)
59 Qatari NC_000020.10 - 70980 Apr 27, 2020 (154)
60 SGDP_PRJ NC_000020.10 - 70980 Apr 27, 2020 (154)
61 Siberian NC_000020.10 - 70980 Apr 27, 2020 (154)
62 TopMed NC_000020.11 - 90339 Apr 27, 2021 (155)
63 UK 10K study - Twins NC_000020.10 - 70980 Oct 12, 2018 (152)
64 ALFA NC_000020.11 - 90339 Apr 27, 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
ss80897100, ss111581050, ss117452063, ss167637421, ss1698510296 NC_000020.9:18979:G:A NC_000020.11:90338:G:A (self)
77195285, 42725487, 30194707, 19037564, 45924419, 16463748, 20007290, 40587296, 10828179, 42725487, ss228210657, ss237729946, ss566082474, ss661953395, ss994456738, ss1082009541, ss1363765926, ss1638249184, ss1681243217, ss1937965368, ss1959890065, ss2029757255, ss2158311825, ss2964602479, ss3017743830, ss3022092070, ss3352380178, ss3652545523, ss3684456459, ss3743178883, ss3758326088, ss3835544943, ss3841395546, ss3888570316, ss3938747025, ss5237600385, ss5435783119, ss5624478031, ss5662711382, ss5845337225, ss5847500473, ss5957607007, ss5979607202 NC_000020.10:70979:G:A NC_000020.11:90338:G:A (self)
101302737, 544380804, 1251393, 354844212, 7732495899, ss2240713445, ss3706405196, ss3725892196, ss3772029924, ss3821499020, ss3846902810, ss5079735267, ss5307820411, ss5500245837, ss5613776802, ss5922371532 NC_000020.11:90338:G:A NC_000020.11:90338:G:A (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 rs60263736

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