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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.

rs2606278

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:24335165 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.41011 (11589/28258, 14KJPN)
T=0.41253 (6914/16760, 8.3KJPN)
T=0.43216 (7058/16332, ALFA) (+ 8 more)
T=0.4138 (2650/6404, 1000G_30x)
T=0.4061 (1190/2930, KOREAN)
T=0.3974 (728/1832, Korea1K)
A=0.496 (227/458, SGDP_PRJ)
T=0.454 (98/216, Qatari)
A=0.50 (28/56, Siberian)
T=0.50 (28/56, Siberian)
T=0.45 (18/40, 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 16332 A=0.56784 T=0.43216
European Sub 12080 A=0.55066 T=0.44934
African Sub 2816 A=0.6399 T=0.3601
African Others Sub 108 A=0.657 T=0.343
African American Sub 2708 A=0.6392 T=0.3608
Asian Sub 108 A=0.657 T=0.343
East Asian Sub 84 A=0.64 T=0.36
Other Asian Sub 24 A=0.71 T=0.29
Latin American 1 Sub 146 A=0.568 T=0.432
Latin American 2 Sub 610 A=0.562 T=0.438
South Asian Sub 94 A=0.55 T=0.45
Other Sub 478 A=0.567 T=0.433


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
14KJPN JAPANESE Study-wide 28258 A=0.58989 T=0.41011
8.3KJPN JAPANESE Study-wide 16760 A=0.58747 T=0.41253
Allele Frequency Aggregator Total Global 16332 A=0.56784 T=0.43216
Allele Frequency Aggregator European Sub 12080 A=0.55066 T=0.44934
Allele Frequency Aggregator African Sub 2816 A=0.6399 T=0.3601
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.562 T=0.438
Allele Frequency Aggregator Other Sub 478 A=0.567 T=0.433
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.568 T=0.432
Allele Frequency Aggregator Asian Sub 108 A=0.657 T=0.343
Allele Frequency Aggregator South Asian Sub 94 A=0.55 T=0.45
1000Genomes_30x Global Study-wide 6404 A=0.5862 T=0.4138
1000Genomes_30x African Sub 1786 A=0.6327 T=0.3673
1000Genomes_30x Europe Sub 1266 A=0.5506 T=0.4494
1000Genomes_30x South Asian Sub 1202 A=0.5499 T=0.4501
1000Genomes_30x East Asian Sub 1170 A=0.6162 T=0.3838
1000Genomes_30x American Sub 980 A=0.556 T=0.444
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5939 T=0.4061
Korean Genome Project KOREAN Study-wide 1832 A=0.6026 T=0.3974
SGDP_PRJ Global Study-wide 458 A=0.496 T=0.504
Qatari Global Study-wide 216 A=0.546 T=0.454
Siberian Global Study-wide 56 A=0.50 T=0.50
The Danish reference pan genome Danish Study-wide 40 A=0.55 T=0.45
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 19 NC_000019.10:g.24335165A>T
GRCh37.p13 chr 19 NC_000019.9:g.24517967A>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 A= T
GRCh38.p14 chr 19 NC_000019.10:g.24335165= NC_000019.10:g.24335165A>T
GRCh37.p13 chr 19 NC_000019.9:g.24517967= NC_000019.9:g.24517967A>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#.

45 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3667279 Sep 28, 2001 (100)
2 SC_JCM ss12579396 Aug 26, 2003 (126)
3 SC_SNP ss12579944 Aug 26, 2003 (126)
4 WI_SSAHASNP ss13834317 Dec 05, 2003 (126)
5 SC_SNP ss15456052 Feb 28, 2004 (126)
6 CSHL-HAPMAP ss19397217 Feb 27, 2004 (126)
7 CSHL-HAPMAP ss20063546 Feb 27, 2004 (126)
8 SSAHASNP ss21539972 Apr 05, 2004 (126)
9 HGSV ss78834281 Dec 06, 2007 (129)
10 ENSEMBL ss132744198 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss168013649 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss171644925 Jul 04, 2010 (132)
13 BUSHMAN ss203721600 Jul 04, 2010 (132)
14 BL ss255586184 May 09, 2011 (134)
15 GMI ss283166322 May 04, 2012 (137)
16 GMI ss287364555 Apr 25, 2013 (138)
17 PJP ss292231927 May 09, 2011 (134)
18 DDI ss1428372605 Apr 01, 2015 (144)
19 EVA_GENOME_DK ss1578601960 Apr 01, 2015 (144)
20 HAMMER_LAB ss1809262552 Sep 08, 2015 (146)
21 WEILL_CORNELL_DGM ss1937691012 Feb 12, 2016 (147)
22 USC_VALOUEV ss2158153952 Dec 20, 2016 (150)
23 SYSTEMSBIOZJU ss2629308181 Nov 08, 2017 (151)
24 GRF ss2702757755 Nov 08, 2017 (151)
25 SWEGEN ss3017295991 Nov 08, 2017 (151)
26 BIOINF_KMB_FNS_UNIBA ss3028643086 Nov 08, 2017 (151)
27 CSHL ss3352253317 Nov 08, 2017 (151)
28 EVA_DECODE ss3702572117 Jul 13, 2019 (153)
29 EVA ss3755943184 Jul 13, 2019 (153)
30 PACBIO ss3788503204 Jul 13, 2019 (153)
31 PACBIO ss3793418019 Jul 13, 2019 (153)
32 PACBIO ss3798304884 Jul 13, 2019 (153)
33 KHV_HUMAN_GENOMES ss3821197434 Jul 13, 2019 (153)
34 EVA ss3835412892 Apr 27, 2020 (154)
35 SGDP_PRJ ss3888005226 Apr 27, 2020 (154)
36 KRGDB ss3938043746 Apr 27, 2020 (154)
37 KOGIC ss3981085965 Apr 27, 2020 (154)
38 TOMMO_GENOMICS ss5227283440 Apr 26, 2021 (155)
39 EVA ss5434217399 Oct 13, 2022 (156)
40 1000G_HIGH_COVERAGE ss5612463860 Oct 13, 2022 (156)
41 SANFORD_IMAGENETICS ss5662200452 Oct 13, 2022 (156)
42 TOMMO_GENOMICS ss5785752848 Oct 13, 2022 (156)
43 YY_MCH ss5817509406 Oct 13, 2022 (156)
44 EVA ss5840413517 Oct 13, 2022 (156)
45 EVA ss5852250426 Oct 13, 2022 (156)
46 1000Genomes_30x NC_000019.10 - 24335165 Oct 13, 2022 (156)
47 The Danish reference pan genome NC_000019.9 - 24517967 Apr 27, 2020 (154)
48 KOREAN population from KRGDB NC_000019.9 - 24517967 Apr 27, 2020 (154)
49 Korean Genome Project NC_000019.10 - 24335165 Apr 27, 2020 (154)
50 Qatari NC_000019.9 - 24517967 Apr 27, 2020 (154)
51 SGDP_PRJ NC_000019.9 - 24517967 Apr 27, 2020 (154)
52 Siberian NC_000019.9 - 24517967 Apr 27, 2020 (154)
53 8.3KJPN NC_000019.9 - 24517967 Apr 26, 2021 (155)
54 14KJPN NC_000019.10 - 24335165 Oct 13, 2022 (156)
55 ALFA NC_000019.10 - 24335165 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)
rs8175812 Mar 10, 2006 (126)
rs9989660 Mar 10, 2006 (126)
rs11085669 Mar 10, 2006 (126)
rs11491234 Mar 10, 2006 (126)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78834281, ss168013649, ss171644925, ss203721600, ss255586184, ss283166322, ss287364555, ss292231927 NC_000019.8:24309806:A:T NC_000019.10:24335164:A:T (self)
4785918, 45221140, 19732934, 40022206, 10670306, 85252747, ss1428372605, ss1578601960, ss1809262552, ss1937691012, ss2158153952, ss2629308181, ss2702757755, ss3017295991, ss3352253317, ss3755943184, ss3788503204, ss3793418019, ss3798304884, ss3835412892, ss3888005226, ss3938043746, ss5227283440, ss5434217399, ss5662200452, ss5840413517 NC_000019.9:24517966:A:T NC_000019.10:24335164:A:T (self)
99989795, 37463966, 119589952, 1575332054, ss3028643086, ss3702572117, ss3821197434, ss3981085965, ss5612463860, ss5785752848, ss5817509406, ss5852250426 NC_000019.10:24335164:A:T NC_000019.10:24335164:A:T (self)
ss12579396, ss12579944, ss13834317, ss19397217, ss20063546, ss21539972 NT_011295.10:15711608:A:T NC_000019.10:24335164:A:T (self)
ss3667279, ss15456052, ss132744198 NT_011295.11:15780768:A:T NC_000019.10:24335164:A: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 rs2606278

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