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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.

rs6469841

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:119721889 (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
C=0.474415 (125573/264690, TOPMED)
C=0.462473 (64725/139954, GnomAD)
C=0.40102 (11332/28258, 14KJPN) (+ 17 more)
C=0.42631 (8053/18890, ALFA)
C=0.40358 (6764/16760, 8.3KJPN)
C=0.4614 (2955/6404, 1000G_30x)
C=0.4515 (2261/5008, 1000G)
C=0.3661 (1640/4480, Estonian)
C=0.3791 (1461/3854, ALSPAC)
C=0.3908 (1449/3708, TWINSUK)
C=0.4181 (1225/2930, KOREAN)
C=0.3908 (716/1832, Korea1K)
C=0.392 (391/998, GoNL)
C=0.430 (258/600, NorthernSweden)
G=0.353 (130/368, SGDP_PRJ)
C=0.473 (156/330, HapMap)
C=0.481 (104/216, Qatari)
C=0.443 (94/212, Vietnamese)
C=0.47 (19/40, GENOME_DK)
G=0.45 (18/40, 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 18890 G=0.57369 C=0.42631
European Sub 14286 G=0.60990 C=0.39010
African Sub 2946 G=0.4216 C=0.5784
African Others Sub 114 G=0.386 C=0.614
African American Sub 2832 G=0.4230 C=0.5770
Asian Sub 112 G=0.562 C=0.438
East Asian Sub 86 G=0.57 C=0.43
Other Asian Sub 26 G=0.54 C=0.46
Latin American 1 Sub 146 G=0.521 C=0.479
Latin American 2 Sub 610 G=0.474 C=0.526
South Asian Sub 98 G=0.64 C=0.36
Other Sub 692 G=0.565 C=0.435


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=0.525585 C=0.474415
gnomAD - Genomes Global Study-wide 139954 G=0.537527 C=0.462473
gnomAD - Genomes European Sub 75792 G=0.60948 C=0.39052
gnomAD - Genomes African Sub 41950 G=0.42322 C=0.57678
gnomAD - Genomes American Sub 13632 G=0.46699 C=0.53301
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.5874 C=0.4126
gnomAD - Genomes East Asian Sub 3118 G=0.5930 C=0.4070
gnomAD - Genomes Other Sub 2144 G=0.5210 C=0.4790
14KJPN JAPANESE Study-wide 28258 G=0.59898 C=0.40102
Allele Frequency Aggregator Total Global 18890 G=0.57369 C=0.42631
Allele Frequency Aggregator European Sub 14286 G=0.60990 C=0.39010
Allele Frequency Aggregator African Sub 2946 G=0.4216 C=0.5784
Allele Frequency Aggregator Other Sub 692 G=0.565 C=0.435
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.474 C=0.526
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.521 C=0.479
Allele Frequency Aggregator Asian Sub 112 G=0.562 C=0.438
Allele Frequency Aggregator South Asian Sub 98 G=0.64 C=0.36
8.3KJPN JAPANESE Study-wide 16760 G=0.59642 C=0.40358
1000Genomes_30x Global Study-wide 6404 G=0.5386 C=0.4614
1000Genomes_30x African Sub 1786 G=0.3919 C=0.6081
1000Genomes_30x Europe Sub 1266 G=0.5964 C=0.4036
1000Genomes_30x South Asian Sub 1202 G=0.7213 C=0.2787
1000Genomes_30x East Asian Sub 1170 G=0.5966 C=0.4034
1000Genomes_30x American Sub 980 G=0.438 C=0.562
1000Genomes Global Study-wide 5008 G=0.5485 C=0.4515
1000Genomes African Sub 1322 G=0.3926 C=0.6074
1000Genomes East Asian Sub 1008 G=0.6002 C=0.3998
1000Genomes Europe Sub 1006 G=0.5974 C=0.4026
1000Genomes South Asian Sub 978 G=0.726 C=0.274
1000Genomes American Sub 694 G=0.450 C=0.550
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6339 C=0.3661
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6209 C=0.3791
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6092 C=0.3908
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5819 C=0.4181
Korean Genome Project KOREAN Study-wide 1832 G=0.6092 C=0.3908
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.608 C=0.392
Northern Sweden ACPOP Study-wide 600 G=0.570 C=0.430
SGDP_PRJ Global Study-wide 368 G=0.353 C=0.647
HapMap Global Study-wide 330 G=0.527 C=0.473
HapMap African Sub 120 G=0.358 C=0.642
HapMap American Sub 120 G=0.642 C=0.358
HapMap Asian Sub 90 G=0.60 C=0.40
Qatari Global Study-wide 216 G=0.519 C=0.481
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.557 C=0.443
The Danish reference pan genome Danish Study-wide 40 G=0.53 C=0.47
Siberian Global Study-wide 40 G=0.45 C=0.55
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 8 NC_000008.11:g.119721889G>C
GRCh37.p13 chr 8 NC_000008.10:g.120734129G>C
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 8 NC_000008.11:g.119721889= NC_000008.11:g.119721889G>C
GRCh37.p13 chr 8 NC_000008.10:g.120734129= NC_000008.10:g.120734129G>C
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#.

69 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10452697 Jul 11, 2003 (116)
2 WI_SSAHASNP ss11938362 Jul 11, 2003 (116)
3 CSHL-HAPMAP ss19752137 Feb 27, 2004 (120)
4 SSAHASNP ss22750909 Apr 05, 2004 (121)
5 ABI ss44923584 Mar 14, 2006 (126)
6 BCMHGSC_JDW ss93957613 Mar 25, 2008 (129)
7 HUMANGENOME_JCVI ss98107420 Feb 06, 2009 (130)
8 ILLUMINA-UK ss116159801 Feb 14, 2009 (130)
9 ENSEMBL ss134544351 Dec 01, 2009 (131)
10 ENSEMBL ss143747007 Dec 01, 2009 (131)
11 GMI ss156822879 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss162736363 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss167061931 Jul 04, 2010 (132)
14 BUSHMAN ss199700416 Jul 04, 2010 (132)
15 1000GENOMES ss210636759 Jul 14, 2010 (132)
16 1000GENOMES ss210721359 Jul 14, 2010 (132)
17 1000GENOMES ss223946861 Jul 14, 2010 (132)
18 1000GENOMES ss234605825 Jul 15, 2010 (132)
19 1000GENOMES ss241424261 Jul 15, 2010 (132)
20 GMI ss279981875 May 04, 2012 (137)
21 GMI ss285915753 Apr 25, 2013 (138)
22 PJP ss294173174 May 09, 2011 (134)
23 TISHKOFF ss561031878 Apr 25, 2013 (138)
24 SSMP ss655469423 Apr 25, 2013 (138)
25 EVA-GONL ss985998333 Aug 21, 2014 (142)
26 JMKIDD_LAB ss1075872054 Aug 21, 2014 (142)
27 1000GENOMES ss1331689895 Aug 21, 2014 (142)
28 DDI ss1431653768 Apr 01, 2015 (144)
29 EVA_GENOME_DK ss1582863163 Apr 01, 2015 (144)
30 EVA_DECODE ss1595612411 Apr 01, 2015 (144)
31 EVA_UK10K_ALSPAC ss1621607903 Apr 01, 2015 (144)
32 EVA_UK10K_TWINSUK ss1664601936 Apr 01, 2015 (144)
33 HAMMER_LAB ss1805734247 Sep 08, 2015 (146)
34 WEILL_CORNELL_DGM ss1929271586 Feb 12, 2016 (147)
35 GENOMED ss1971080368 Jul 19, 2016 (147)
36 JJLAB ss2025339185 Sep 14, 2016 (149)
37 USC_VALOUEV ss2153566784 Dec 20, 2016 (150)
38 HUMAN_LONGEVITY ss2306919471 Dec 20, 2016 (150)
39 SYSTEMSBIOZJU ss2627143219 Nov 08, 2017 (151)
40 GRF ss2709351546 Nov 08, 2017 (151)
41 GNOMAD ss2872082151 Nov 08, 2017 (151)
42 SWEGEN ss3003910613 Nov 08, 2017 (151)
43 BIOINF_KMB_FNS_UNIBA ss3026454449 Nov 08, 2017 (151)
44 CSHL ss3348379158 Nov 08, 2017 (151)
45 URBANLAB ss3649004576 Oct 12, 2018 (152)
46 EGCUT_WGS ss3671629807 Jul 13, 2019 (153)
47 EVA_DECODE ss3722899221 Jul 13, 2019 (153)
48 ACPOP ss3736053419 Jul 13, 2019 (153)
49 EVA ss3768542255 Jul 13, 2019 (153)
50 KHV_HUMAN_GENOMES ss3811706797 Jul 13, 2019 (153)
51 EVA ss3831385458 Apr 26, 2020 (154)
52 EVA ss3839202280 Apr 26, 2020 (154)
53 EVA ss3844663220 Apr 26, 2020 (154)
54 SGDP_PRJ ss3870877499 Apr 26, 2020 (154)
55 KRGDB ss3918472478 Apr 26, 2020 (154)
56 KOGIC ss3964736636 Apr 26, 2020 (154)
57 TOPMED ss4802364165 Apr 26, 2021 (155)
58 TOMMO_GENOMICS ss5190755322 Apr 26, 2021 (155)
59 1000G_HIGH_COVERAGE ss5278746119 Oct 16, 2022 (156)
60 HUGCELL_USP ss5475145994 Oct 16, 2022 (156)
61 EVA ss5509532770 Oct 16, 2022 (156)
62 1000G_HIGH_COVERAGE ss5569983771 Oct 16, 2022 (156)
63 SANFORD_IMAGENETICS ss5646302442 Oct 16, 2022 (156)
64 TOMMO_GENOMICS ss5733410113 Oct 16, 2022 (156)
65 YY_MCH ss5810088194 Oct 16, 2022 (156)
66 EVA ss5831149140 Oct 16, 2022 (156)
67 EVA ss5856549856 Oct 16, 2022 (156)
68 EVA ss5890804197 Oct 16, 2022 (156)
69 EVA ss5975548667 Oct 16, 2022 (156)
70 1000Genomes NC_000008.10 - 120734129 Oct 12, 2018 (152)
71 1000Genomes_30x NC_000008.11 - 119721889 Oct 16, 2022 (156)
72 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 120734129 Oct 12, 2018 (152)
73 Genetic variation in the Estonian population NC_000008.10 - 120734129 Oct 12, 2018 (152)
74 The Danish reference pan genome NC_000008.10 - 120734129 Apr 26, 2020 (154)
75 gnomAD - Genomes NC_000008.11 - 119721889 Apr 26, 2021 (155)
76 Genome of the Netherlands Release 5 NC_000008.10 - 120734129 Apr 26, 2020 (154)
77 HapMap NC_000008.11 - 119721889 Apr 26, 2020 (154)
78 KOREAN population from KRGDB NC_000008.10 - 120734129 Apr 26, 2020 (154)
79 Korean Genome Project NC_000008.11 - 119721889 Apr 26, 2020 (154)
80 Northern Sweden NC_000008.10 - 120734129 Jul 13, 2019 (153)
81 Qatari NC_000008.10 - 120734129 Apr 26, 2020 (154)
82 SGDP_PRJ NC_000008.10 - 120734129 Apr 26, 2020 (154)
83 Siberian NC_000008.10 - 120734129 Apr 26, 2020 (154)
84 8.3KJPN NC_000008.10 - 120734129 Apr 26, 2021 (155)
85 14KJPN NC_000008.11 - 119721889 Oct 16, 2022 (156)
86 TopMed NC_000008.11 - 119721889 Apr 26, 2021 (155)
87 UK 10K study - Twins NC_000008.10 - 120734129 Oct 12, 2018 (152)
88 A Vietnamese Genetic Variation Database NC_000008.10 - 120734129 Jul 13, 2019 (153)
89 ALFA NC_000008.11 - 119721889 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
ss93957613, ss116159801, ss162736363, ss167061931, ss199700416, ss210636759, ss210721359, ss279981875, ss285915753, ss294173174, ss1595612411 NC_000008.9:120803309:G:C NC_000008.11:119721888:G:C (self)
43881441, 24410514, 17368055, 9028100, 10895446, 25649872, 9338284, 11313516, 22894479, 6083138, 48724629, 24410514, 5424837, ss223946861, ss234605825, ss241424261, ss561031878, ss655469423, ss985998333, ss1075872054, ss1331689895, ss1431653768, ss1582863163, ss1621607903, ss1664601936, ss1805734247, ss1929271586, ss1971080368, ss2025339185, ss2153566784, ss2627143219, ss2709351546, ss2872082151, ss3003910613, ss3348379158, ss3671629807, ss3736053419, ss3768542255, ss3831385458, ss3839202280, ss3870877499, ss3918472478, ss5190755322, ss5509532770, ss5646302442, ss5831149140, ss5975548667 NC_000008.10:120734128:G:C NC_000008.11:119721888:G:C (self)
57509706, 309590408, 3713581, 21114637, 67247217, 639741725, 11286083759, ss2306919471, ss3026454449, ss3649004576, ss3722899221, ss3811706797, ss3844663220, ss3964736636, ss4802364165, ss5278746119, ss5475145994, ss5569983771, ss5733410113, ss5810088194, ss5856549856, ss5890804197 NC_000008.11:119721888:G:C NC_000008.11:119721888:G:C (self)
ss10452697, ss11938362 NT_008046.13:33952306:G:C NC_000008.11:119721888:G:C (self)
ss19752137, ss22750909 NT_008046.14:33952306:G:C NC_000008.11:119721888:G:C (self)
ss44923584, ss98107420, ss134544351, ss143747007, ss156822879 NT_008046.16:34007677:G:C NC_000008.11:119721888: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 rs6469841

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