Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs2844567

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:31368867 (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=0.122196 (32344/264690, TOPMED)
A=0.105504 (14791/140194, GnomAD)
A=0.15047 (11842/78698, PAGE_STUDY) (+ 18 more)
A=0.08839 (6199/70136, ALFA)
A=0.09541 (2696/28258, 14KJPN)
A=0.09594 (1608/16760, 8.3KJPN)
A=0.1187 (760/6404, 1000G_30x)
A=0.1172 (587/5008, 1000G)
A=0.0306 (137/4480, Estonian)
A=0.0898 (346/3854, ALSPAC)
A=0.0796 (295/3708, TWINSUK)
A=0.1225 (358/2922, KOREAN)
A=0.073 (73/998, GoNL)
A=0.027 (16/600, NorthernSweden)
A=0.074 (24/324, HapMap)
A=0.222 (48/216, Qatari)
A=0.032 (7/216, Vietnamese)
G=0.444 (48/108, SGDP_PRJ)
A=0.05 (2/40, GENOME_DK)
G=0.50 (9/18, Siberian)
A=0.50 (9/18, Siberian)
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 70136 G=0.91161 A=0.08839
European Sub 56642 G=0.92131 A=0.07869
African Sub 3472 G=0.8321 A=0.1679
African Others Sub 124 G=0.871 A=0.129
African American Sub 3348 G=0.8306 A=0.1694
Asian Sub 152 G=0.941 A=0.059
East Asian Sub 120 G=0.942 A=0.058
Other Asian Sub 32 G=0.94 A=0.06
Latin American 1 Sub 246 G=0.805 A=0.195
Latin American 2 Sub 4782 G=0.8662 A=0.1338
South Asian Sub 130 G=0.869 A=0.131
Other Sub 4712 G=0.9056 A=0.0944


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=0.877804 A=0.122196
gnomAD - Genomes Global Study-wide 140194 G=0.894496 A=0.105504
gnomAD - Genomes European Sub 75930 G=0.93074 A=0.06926
gnomAD - Genomes African Sub 42004 G=0.83709 A=0.16291
gnomAD - Genomes American Sub 13660 G=0.85329 A=0.14671
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.9208 A=0.0792
gnomAD - Genomes East Asian Sub 3126 G=0.9635 A=0.0365
gnomAD - Genomes Other Sub 2154 G=0.8570 A=0.1430
The PAGE Study Global Study-wide 78698 G=0.84953 A=0.15047
The PAGE Study AfricanAmerican Sub 32512 G=0.84332 A=0.15668
The PAGE Study Mexican Sub 10810 G=0.86781 A=0.13219
The PAGE Study Asian Sub 8318 G=0.9215 A=0.0785
The PAGE Study PuertoRican Sub 7918 G=0.7752 A=0.2248
The PAGE Study NativeHawaiian Sub 4534 G=0.8456 A=0.1544
The PAGE Study Cuban Sub 4230 G=0.8307 A=0.1693
The PAGE Study Dominican Sub 3828 G=0.8221 A=0.1779
The PAGE Study CentralAmerican Sub 2450 G=0.8886 A=0.1114
The PAGE Study SouthAmerican Sub 1982 G=0.8653 A=0.1347
The PAGE Study NativeAmerican Sub 1260 G=0.8889 A=0.1111
The PAGE Study SouthAsian Sub 856 G=0.873 A=0.127
Allele Frequency Aggregator Total Global 70136 G=0.91161 A=0.08839
Allele Frequency Aggregator European Sub 56642 G=0.92131 A=0.07869
Allele Frequency Aggregator Latin American 2 Sub 4782 G=0.8662 A=0.1338
Allele Frequency Aggregator Other Sub 4712 G=0.9056 A=0.0944
Allele Frequency Aggregator African Sub 3472 G=0.8321 A=0.1679
Allele Frequency Aggregator Latin American 1 Sub 246 G=0.805 A=0.195
Allele Frequency Aggregator Asian Sub 152 G=0.941 A=0.059
Allele Frequency Aggregator South Asian Sub 130 G=0.869 A=0.131
14KJPN JAPANESE Study-wide 28258 G=0.90459 A=0.09541
8.3KJPN JAPANESE Study-wide 16760 G=0.90406 A=0.09594
1000Genomes_30x Global Study-wide 6404 G=0.8813 A=0.1187
1000Genomes_30x African Sub 1786 G=0.8326 A=0.1674
1000Genomes_30x Europe Sub 1266 G=0.8894 A=0.1106
1000Genomes_30x South Asian Sub 1202 G=0.9043 A=0.0957
1000Genomes_30x East Asian Sub 1170 G=0.9504 A=0.0496
1000Genomes_30x American Sub 980 G=0.849 A=0.151
1000Genomes Global Study-wide 5008 G=0.8828 A=0.1172
1000Genomes African Sub 1322 G=0.8283 A=0.1717
1000Genomes East Asian Sub 1008 G=0.9484 A=0.0516
1000Genomes Europe Sub 1006 G=0.8986 A=0.1014
1000Genomes South Asian Sub 978 G=0.905 A=0.095
1000Genomes American Sub 694 G=0.837 A=0.163
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9694 A=0.0306
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9102 A=0.0898
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9204 A=0.0796
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.8775 A=0.1225
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.927 A=0.073
Northern Sweden ACPOP Study-wide 600 G=0.973 A=0.027
HapMap Global Study-wide 324 G=0.926 A=0.074
HapMap African Sub 118 G=0.898 A=0.102
HapMap American Sub 118 G=0.958 A=0.042
HapMap Asian Sub 88 G=0.92 A=0.08
Qatari Global Study-wide 216 G=0.778 A=0.222
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.968 A=0.032
SGDP_PRJ Global Study-wide 108 G=0.444 A=0.556
The Danish reference pan genome Danish Study-wide 40 G=0.95 A=0.05
Siberian Global Study-wide 18 G=0.50 A=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 6 NC_000006.12:g.31368867G>A
GRCh37.p13 chr 6 NC_000006.11:g.31336644G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.2849221G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.2849327G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2624558G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2630154G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2671102G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2670400G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2677474A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2683094A>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= A
GRCh38.p14 chr 6 NC_000006.12:g.31368867= NC_000006.12:g.31368867G>A
GRCh37.p13 chr 6 NC_000006.11:g.31336644= NC_000006.11:g.31336644G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.2849221= NT_113891.3:g.2849221G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.2849327= NT_113891.2:g.2849327G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2624558= NT_167248.2:g.2624558G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2630154= NT_167248.1:g.2630154G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2671102= NT_167249.2:g.2671102G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2670400= NT_167249.1:g.2670400G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2677474A>G NT_167246.2:g.2677474=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2683094A>G NT_167246.1:g.2683094=
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#.

82 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss4027350 Sep 28, 2001 (100)
2 SI_MHC_SNP ss35088318 May 24, 2005 (125)
3 ILLUMINA ss160588314 Dec 01, 2009 (131)
4 BUSHMAN ss201620493 Jul 04, 2010 (132)
5 1000GENOMES ss222302014 Jul 14, 2010 (137)
6 1000GENOMES ss233396946 Jul 14, 2010 (137)
7 1000GENOMES ss240467958 Jul 15, 2010 (137)
8 GMI ss278724624 May 04, 2012 (137)
9 ILLUMINA ss480691000 May 04, 2012 (137)
10 ILLUMINA ss480706503 May 04, 2012 (137)
11 ILLUMINA ss481567602 Sep 08, 2015 (146)
12 ILLUMINA ss485140330 May 04, 2012 (137)
13 ILLUMINA ss535866978 Sep 08, 2015 (146)
14 TISHKOFF ss559112214 Apr 25, 2013 (138)
15 SSMP ss653032559 Apr 25, 2013 (138)
16 ILLUMINA ss780674102 Sep 08, 2015 (146)
17 ILLUMINA ss783016452 Sep 08, 2015 (146)
18 ILLUMINA ss783976555 Sep 08, 2015 (146)
19 ILLUMINA ss832273904 Sep 08, 2015 (146)
20 ILLUMINA ss836170334 Sep 08, 2015 (146)
21 EVA-GONL ss982762631 Aug 21, 2014 (142)
22 JMKIDD_LAB ss1073503646 Aug 21, 2014 (142)
23 1000GENOMES ss1319551798 Aug 21, 2014 (142)
24 EVA_GENOME_DK ss1581604738 Apr 01, 2015 (144)
25 EVA_DECODE ss1592307162 Apr 01, 2015 (144)
26 EVA_UK10K_ALSPAC ss1615273778 Apr 01, 2015 (144)
27 EVA_UK10K_TWINSUK ss1658267811 Apr 01, 2015 (144)
28 ILLUMINA ss1752628155 Sep 08, 2015 (146)
29 WEILL_CORNELL_DGM ss1926014622 Feb 12, 2016 (147)
30 ILLUMINA ss1958887202 Feb 12, 2016 (147)
31 GENOMED ss1970356116 Jul 19, 2016 (147)
32 JJLAB ss2023639754 Sep 14, 2016 (149)
33 ILLUMINA ss2094824391 Dec 20, 2016 (150)
34 ILLUMINA ss2095177616 Dec 20, 2016 (150)
35 USC_VALOUEV ss2151805871 Dec 20, 2016 (150)
36 HUMAN_LONGEVITY ss2282938126 Dec 20, 2016 (150)
37 ILLUMINA ss2634428907 Nov 08, 2017 (151)
38 GRF ss2707399244 Nov 08, 2017 (151)
39 SWEGEN ss2998791229 Nov 08, 2017 (151)
40 ILLUMINA ss3022598497 Nov 08, 2017 (151)
41 ILLUMINA ss3629501692 Oct 12, 2018 (152)
42 ILLUMINA ss3632347582 Oct 12, 2018 (152)
43 ILLUMINA ss3633414999 Oct 12, 2018 (152)
44 ILLUMINA ss3634137464 Oct 12, 2018 (152)
45 ILLUMINA ss3635056490 Oct 12, 2018 (152)
46 ILLUMINA ss3635818503 Oct 12, 2018 (152)
47 ILLUMINA ss3636777344 Oct 12, 2018 (152)
48 ILLUMINA ss3637571282 Oct 12, 2018 (152)
49 ILLUMINA ss3640763789 Oct 12, 2018 (152)
50 ILLUMINA ss3653110910 Oct 12, 2018 (152)
51 EGCUT_WGS ss3666707503 Jul 13, 2019 (153)
52 EVA_DECODE ss3716903428 Jul 13, 2019 (153)
53 ILLUMINA ss3726329513 Jul 13, 2019 (153)
54 ACPOP ss3733358324 Jul 13, 2019 (153)
55 ILLUMINA ss3745356505 Jul 13, 2019 (153)
56 EVA ss3764818825 Jul 13, 2019 (153)
57 PAGE_CC ss3771278575 Jul 13, 2019 (153)
58 ILLUMINA ss3772850209 Jul 13, 2019 (153)
59 KHV_HUMAN_GENOMES ss3807974171 Jul 13, 2019 (153)
60 EVA ss3829830431 Apr 26, 2020 (154)
61 SGDP_PRJ ss3864248322 Apr 26, 2020 (154)
62 KRGDB ss3911023510 Apr 26, 2020 (154)
63 EVA ss4017265983 Apr 26, 2021 (155)
64 VINODS ss4025228104 Apr 26, 2021 (155)
65 VINODS ss4025265530 Apr 26, 2021 (155)
66 VINODS ss4025285733 Apr 26, 2021 (155)
67 TOPMED ss4698353965 Apr 26, 2021 (155)
68 TOMMO_GENOMICS ss5176828436 Apr 26, 2021 (155)
69 1000G_HIGH_COVERAGE ss5267930388 Oct 13, 2022 (156)
70 EVA ss5315141551 Oct 13, 2022 (156)
71 EVA ss5364714907 Oct 13, 2022 (156)
72 HUGCELL_USP ss5465665798 Oct 13, 2022 (156)
73 EVA ss5508425873 Oct 13, 2022 (156)
74 1000G_HIGH_COVERAGE ss5553585213 Oct 13, 2022 (156)
75 SANFORD_IMAGENETICS ss5640084713 Oct 13, 2022 (156)
76 TOMMO_GENOMICS ss5714681113 Oct 13, 2022 (156)
77 EVA ss5799683432 Oct 13, 2022 (156)
78 YY_MCH ss5807303770 Oct 13, 2022 (156)
79 EVA ss5842022636 Oct 13, 2022 (156)
80 EVA ss5855281910 Oct 13, 2022 (156)
81 EVA ss5883238071 Oct 13, 2022 (156)
82 EVA ss5968586899 Oct 13, 2022 (156)
83 1000Genomes NC_000006.11 - 31336644 Oct 12, 2018 (152)
84 1000Genomes_30x NC_000006.12 - 31368867 Oct 13, 2022 (156)
85 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 31336644 Oct 12, 2018 (152)
86 Genetic variation in the Estonian population NC_000006.11 - 31336644 Oct 12, 2018 (152)
87 The Danish reference pan genome NC_000006.11 - 31336644 Apr 26, 2020 (154)
88 gnomAD - Genomes NC_000006.12 - 31368867 Apr 26, 2021 (155)
89 Genome of the Netherlands Release 5 NC_000006.11 - 31336644 Apr 26, 2020 (154)
90 HapMap NC_000006.12 - 31368867 Apr 26, 2020 (154)
91 KOREAN population from KRGDB NC_000006.11 - 31336644 Apr 26, 2020 (154)
92 Northern Sweden NC_000006.11 - 31336644 Jul 13, 2019 (153)
93 The PAGE Study NC_000006.12 - 31368867 Jul 13, 2019 (153)
94 Qatari NC_000006.11 - 31336644 Apr 26, 2020 (154)
95 SGDP_PRJ NC_000006.11 - 31336644 Apr 26, 2020 (154)
96 Siberian NC_000006.11 - 31336644 Apr 26, 2020 (154)
97 8.3KJPN NC_000006.11 - 31336644 Apr 26, 2021 (155)
98 14KJPN NC_000006.12 - 31368867 Oct 13, 2022 (156)
99 TopMed NC_000006.12 - 31368867 Apr 26, 2021 (155)
100 UK 10K study - Twins NC_000006.11 - 31336644 Oct 12, 2018 (152)
101 A Vietnamese Genetic Variation Database NC_000006.11 - 31336644 Jul 13, 2019 (153)
102 ALFA NC_000006.12 - 31368867 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)
rs116070600 May 04, 2012 (137)
rs116902898 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss201620493, ss278724624, ss480691000, ss1592307162 NC_000006.10:31444622:G:A NC_000006.12:31368866:G:A (self)
31318897, 17462832, 12445751, 7769677, 7761653, 18200904, 6643189, 8056552, 16265302, 4322225, 34797743, 17462832, 3871790, ss222302014, ss233396946, ss240467958, ss480706503, ss481567602, ss485140330, ss535866978, ss559112214, ss653032559, ss780674102, ss783016452, ss783976555, ss832273904, ss836170334, ss982762631, ss1073503646, ss1319551798, ss1581604738, ss1615273778, ss1658267811, ss1752628155, ss1926014622, ss1958887202, ss1970356116, ss2023639754, ss2094824391, ss2095177616, ss2151805871, ss2634428907, ss2707399244, ss2998791229, ss3022598497, ss3629501692, ss3632347582, ss3633414999, ss3634137464, ss3635056490, ss3635818503, ss3636777344, ss3637571282, ss3640763789, ss3653110910, ss3666707503, ss3733358324, ss3745356505, ss3764818825, ss3772850209, ss3829830431, ss3864248322, ss3911023510, ss4017265983, ss5176828436, ss5315141551, ss5364714907, ss5508425873, ss5640084713, ss5799683432, ss5842022636, ss5968586899 NC_000006.11:31336643:G:A NC_000006.12:31368866:G:A (self)
41111148, 221181377, 3099288, 500044, 48518217, 535731523, 10052145685, ss2282938126, ss3716903428, ss3726329513, ss3771278575, ss3807974171, ss4698353965, ss5267930388, ss5465665798, ss5553585213, ss5714681113, ss5807303770, ss5855281910, ss5883238071 NC_000006.12:31368866:G:A NC_000006.12:31368866:G:A (self)
ss4027350, ss35088318, ss160588314 NT_007592.15:31276643:G:A NC_000006.12:31368866:G:A (self)
ss4025228104 NT_167246.2:2677473:A:A NC_000006.12:31368866:G:A (self)
ss4025265530 NT_167248.2:2624557:G:A NC_000006.12:31368866:G:A (self)
ss4025285733 NT_167249.2:2671101:G:A NC_000006.12:31368866: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 rs2844567

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