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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.

rs9714344

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:34269 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.204277 (54070/264690, TOPMED)
G=0.210689 (29504/140036, GnomAD)
G=0.07538 (2130/28258, 14KJPN) (+ 4 more)
G=0.23224 (4387/18890, ALFA)
G=0.1619 (1037/6404, 1000G_30x)
G=0.0464 (85/1832, Korea1K)
G=0.135 (43/318, HapMap)
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=0.23224 C=0.76776
European Sub 14286 G=0.25654 C=0.74346
African Sub 2946 G=0.1490 C=0.8510
African Others Sub 114 G=0.105 C=0.895
African American Sub 2832 G=0.1508 C=0.8492
Asian Sub 112 G=0.080 C=0.920
East Asian Sub 86 G=0.06 C=0.94
Other Asian Sub 26 G=0.15 C=0.85
Latin American 1 Sub 146 G=0.247 C=0.753
Latin American 2 Sub 610 G=0.115 C=0.885
South Asian Sub 98 G=0.28 C=0.72
Other Sub 692 G=0.204 C=0.796


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=0.204277 C=0.795723
gnomAD - Genomes Global Study-wide 140036 G=0.210689 C=0.789311
gnomAD - Genomes European Sub 75846 G=0.25140 C=0.74860
gnomAD - Genomes African Sub 41952 G=0.15973 C=0.84027
gnomAD - Genomes American Sub 13638 G=0.15457 C=0.84543
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.3061 C=0.6939
gnomAD - Genomes East Asian Sub 3128 G=0.0556 C=0.9444
gnomAD - Genomes Other Sub 2150 G=0.2028 C=0.7972
14KJPN JAPANESE Study-wide 28258 G=0.07538 C=0.92462
Allele Frequency Aggregator Total Global 18890 G=0.23224 C=0.76776
Allele Frequency Aggregator European Sub 14286 G=0.25654 C=0.74346
Allele Frequency Aggregator African Sub 2946 G=0.1490 C=0.8510
Allele Frequency Aggregator Other Sub 692 G=0.204 C=0.796
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.115 C=0.885
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.247 C=0.753
Allele Frequency Aggregator Asian Sub 112 G=0.080 C=0.920
Allele Frequency Aggregator South Asian Sub 98 G=0.28 C=0.72
1000Genomes_30x Global Study-wide 6404 G=0.1619 C=0.8381
1000Genomes_30x African Sub 1786 G=0.1361 C=0.8639
1000Genomes_30x Europe Sub 1266 G=0.2220 C=0.7780
1000Genomes_30x South Asian Sub 1202 G=0.2646 C=0.7354
1000Genomes_30x East Asian Sub 1170 G=0.0590 C=0.9410
1000Genomes_30x American Sub 980 G=0.129 C=0.871
Korean Genome Project KOREAN Study-wide 1832 G=0.0464 C=0.9536
HapMap Global Study-wide 318 G=0.135 C=0.865
HapMap American Sub 118 G=0.220 C=0.780
HapMap African Sub 116 G=0.129 C=0.871
HapMap Asian Sub 84 G=0.02 C=0.98
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 3 NC_000003.12:g.34269G>C
GRCh37.p13 chr 3 NC_000003.11:g.75943C>G
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= C
GRCh38.p14 chr 3 NC_000003.12:g.34269= NC_000003.12:g.34269G>C
GRCh37.p13 chr 3 NC_000003.11:g.75943C>G NC_000003.11:g.75943=
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, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss13521547 Dec 05, 2003 (119)
2 ABI ss42060832 Mar 14, 2006 (126)
3 ILLUMINA-UK ss116933750 Dec 01, 2009 (131)
4 BCM-HGSC-SUB ss206220431 Jul 04, 2010 (132)
5 1000GENOMES ss219921918 Jul 14, 2010 (132)
6 1000GENOMES ss231664483 Jul 14, 2010 (132)
7 GMI ss284573531 Apr 25, 2013 (138)
8 TISHKOFF ss556355013 Apr 25, 2013 (138)
9 SSMP ss650018341 Apr 25, 2013 (138)
10 EVA-GONL ss978164239 Aug 21, 2014 (142)
11 JMKIDD_LAB ss1070090441 Aug 21, 2014 (142)
12 1000GENOMES ss1302408902 Aug 21, 2014 (142)
13 DDI ss1429295779 Apr 01, 2015 (144)
14 EVA_GENOME_DK ss1579800324 Apr 01, 2015 (144)
15 EVA_DECODE ss1587622582 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1606205223 Apr 01, 2015 (144)
17 EVA_UK10K_TWINSUK ss1649199256 Apr 01, 2015 (144)
18 HAMMER_LAB ss1798694850 Sep 08, 2015 (146)
19 WEILL_CORNELL_DGM ss1921415637 Feb 12, 2016 (147)
20 JJLAB ss2021256327 Sep 14, 2016 (149)
21 USC_VALOUEV ss2149325475 Dec 20, 2016 (150)
22 GRF ss2704679027 Nov 08, 2017 (151)
23 GNOMAD ss2788467465 Nov 08, 2017 (151)
24 SWEGEN ss2991671841 Nov 08, 2017 (151)
25 BIOINF_KMB_FNS_UNIBA ss3024389185 Nov 08, 2017 (151)
26 CSHL ss3344833698 Nov 08, 2017 (151)
27 URBANLAB ss3647317122 Oct 11, 2018 (152)
28 EVA_DECODE ss3708445796 Jul 13, 2019 (153)
29 ACPOP ss3729544050 Jul 13, 2019 (153)
30 EVA ss3759536503 Jul 13, 2019 (153)
31 KHV_HUMAN_GENOMES ss3802685407 Jul 13, 2019 (153)
32 EVA ss3827607279 Apr 25, 2020 (154)
33 EVA ss3842647395 Apr 25, 2020 (154)
34 SGDP_PRJ ss3855011238 Apr 25, 2020 (154)
35 KRGDB ss3900776170 Apr 25, 2020 (154)
36 KOGIC ss3950480900 Apr 25, 2020 (154)
37 TOPMED ss4551023685 Apr 26, 2021 (155)
38 TOMMO_GENOMICS ss5157373291 Apr 26, 2021 (155)
39 1000G_HIGH_COVERAGE ss5252707302 Oct 13, 2022 (156)
40 EVA ss5337267817 Oct 13, 2022 (156)
41 1000G_HIGH_COVERAGE ss5530371735 Oct 13, 2022 (156)
42 SANFORD_IMAGENETICS ss5631338678 Oct 13, 2022 (156)
43 TOMMO_GENOMICS ss5688525419 Oct 13, 2022 (156)
44 YY_MCH ss5803392839 Oct 13, 2022 (156)
45 EVA ss5825209854 Oct 13, 2022 (156)
46 EVA ss5853445731 Oct 13, 2022 (156)
47 EVA ss5867239713 Oct 13, 2022 (156)
48 EVA ss5959594255 Oct 13, 2022 (156)
49 EVA ss5980125096 Oct 13, 2022 (156)
50 1000Genomes_30x NC_000003.12 - 34269 Oct 13, 2022 (156)
51 gnomAD - Genomes NC_000003.12 - 34269 Apr 26, 2021 (155)
52 HapMap NC_000003.12 - 34269 Apr 25, 2020 (154)
53 Korean Genome Project NC_000003.12 - 34269 Apr 25, 2020 (154)
54 14KJPN NC_000003.12 - 34269 Oct 13, 2022 (156)
55 TopMed NC_000003.12 - 34269 Apr 26, 2021 (155)
56 ALFA NC_000003.12 - 34269 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss116933750, ss206220431, ss284573531, ss1587622582 NC_000003.10:50942:C:C NC_000003.12:34268:G:C (self)
ss219921918, ss231664483, ss556355013, ss650018341, ss978164239, ss1070090441, ss1302408902, ss1429295779, ss1579800324, ss1606205223, ss1649199256, ss1798694850, ss1921415637, ss2021256327, ss2149325475, ss2704679027, ss2788467465, ss2991671841, ss3344833698, ss3729544050, ss3759536503, ss3827607279, ss3855011238, ss3900776170, ss5157373291, ss5337267817, ss5631338678, ss5825209854, ss5959594255, ss5980125096 NC_000003.11:75942:C:C NC_000003.12:34268:G:C (self)
17897670, 96344756, 2281350, 6858901, 22362523, 388401240, 4683896757, ss3024389185, ss3647317122, ss3708445796, ss3802685407, ss3842647395, ss3950480900, ss4551023685, ss5252707302, ss5530371735, ss5688525419, ss5803392839, ss5853445731, ss5867239713 NC_000003.12:34268:G:C NC_000003.12:34268:G:C (self)
ss13521547 NT_022517.16:15942:C:C NC_000003.12:34268:G:C (self)
ss42060832 NT_022517.18:15942:C:C NC_000003.12:34268:G:C (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 rs9714344

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