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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.

rs1185049

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:28652497 (GRCh38.p13) 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>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.481998 (127580/264690, TOPMED)
G=0.34544 (26260/76020, ALFA)
G=0.48992 (8211/16760, 8.3KJPN) (+ 16 more)
A=0.4770 (2389/5008, 1000G)
G=0.4234 (1897/4480, Estonian)
G=0.3448 (1329/3854, ALSPAC)
G=0.3622 (1343/3708, TWINSUK)
G=0.4816 (1410/2928, KOREAN)
G=0.4928 (1026/2082, HGDP_Stanford)
A=0.4750 (894/1882, HapMap)
G=0.4727 (866/1832, Korea1K)
G=0.380 (379/998, GoNL)
G=0.413 (248/600, NorthernSweden)
A=0.254 (97/382, SGDP_PRJ)
G=0.380 (82/216, Qatari)
A=0.430 (92/214, Vietnamese)
G=0.20 (16/82, Ancient Sardinia)
G=0.42 (17/40, GENOME_DK)
A=0.31 (11/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 13 NC_000013.11:g.28652497A>C
GRCh38.p13 chr 13 NC_000013.11:g.28652497A>G
GRCh37.p13 chr 13 NC_000013.10:g.29226634A>C
GRCh37.p13 chr 13 NC_000013.10:g.29226634A>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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 76020 A=0.65456 C=0.00000, G=0.34544
European Sub 65250 A=0.67119 C=0.00000, G=0.32881
African Sub 2682 A=0.3874 C=0.0000, G=0.6126
African Others Sub 98 A=0.34 C=0.00, G=0.66
African American Sub 2584 A=0.3893 C=0.0000, G=0.6107
Asian Sub 130 A=0.646 C=0.000, G=0.354
East Asian Sub 108 A=0.657 C=0.000, G=0.343
Other Asian Sub 22 A=0.59 C=0.00, G=0.41
Latin American 1 Sub 176 A=0.710 C=0.000, G=0.290
Latin American 2 Sub 838 A=0.563 C=0.000, G=0.437
South Asian Sub 4902 A=0.5945 C=0.0000, G=0.4055
Other Sub 2042 A=0.6518 C=0.0000, G=0.3482


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 A=0.518002 G=0.481998
8.3KJPN JAPANESE Study-wide 16760 A=0.51008 G=0.48992
1000Genomes Global Study-wide 5008 A=0.4770 G=0.5230
1000Genomes African Sub 1322 A=0.2640 G=0.7360
1000Genomes East Asian Sub 1008 A=0.4960 G=0.5040
1000Genomes Europe Sub 1006 A=0.6640 G=0.3360
1000Genomes South Asian Sub 978 A=0.546 G=0.454
1000Genomes American Sub 694 A=0.487 G=0.513
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.5766 G=0.4234
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6552 G=0.3448
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6378 G=0.3622
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.5184 G=0.4816
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 A=0.5072 G=0.4928
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.513 G=0.487
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.635 G=0.365
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.637 G=0.363
HGDP-CEPH-db Supplement 1 Europe Sub 318 A=0.711 G=0.289
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.223 G=0.777
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.134 G=0.866
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.28 G=0.72
HapMap Global Study-wide 1882 A=0.4750 G=0.5250
HapMap American Sub 764 A=0.538 G=0.462
HapMap African Sub 692 A=0.318 G=0.682
HapMap Asian Sub 250 A=0.528 G=0.472
HapMap Europe Sub 176 A=0.744 G=0.256
Korean Genome Project KOREAN Study-wide 1832 A=0.5273 G=0.4727
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.620 G=0.380
Northern Sweden ACPOP Study-wide 600 A=0.587 G=0.413
SGDP_PRJ Global Study-wide 382 A=0.254 G=0.746
Qatari Global Study-wide 216 A=0.620 G=0.380
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.430 G=0.570
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 82 A=0.80 G=0.20
The Danish reference pan genome Danish Study-wide 40 A=0.57 G=0.42
Siberian Global Study-wide 36 A=0.31 G=0.69
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= C G
GRCh38.p13 chr 13 NC_000013.11:g.28652497= NC_000013.11:g.28652497A>C NC_000013.11:g.28652497A>G
GRCh37.p13 chr 13 NC_000013.10:g.29226634= NC_000013.10:g.29226634A>C NC_000013.10:g.29226634A>G
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#.

94 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss1657650 Oct 18, 2000 (87)
2 TSC-CSHL ss2398814 Oct 23, 2000 (88)
3 SC_JCM ss2439359 Nov 09, 2000 (92)
4 TSC-CSHL ss5173158 Oct 08, 2002 (108)
5 SC_JCM ss5792043 Feb 20, 2003 (111)
6 BCM_SSAHASNP ss11061903 Jul 11, 2003 (116)
7 SC_SNP ss13254289 Dec 05, 2003 (119)
8 SSAHASNP ss21094114 Apr 05, 2004 (121)
9 ABI ss43483813 Mar 13, 2006 (126)
10 ILLUMINA ss66961554 Nov 30, 2006 (127)
11 ILLUMINA ss67127103 Nov 30, 2006 (127)
12 ILLUMINA ss68115041 Dec 12, 2006 (127)
13 ILLUMINA ss70545118 May 23, 2008 (130)
14 ILLUMINA ss71078401 May 17, 2007 (127)
15 ILLUMINA ss75869276 Dec 06, 2007 (129)
16 HGSV ss81256761 Dec 14, 2007 (130)
17 HGSV ss82177021 Dec 14, 2007 (130)
18 KRIBB_YJKIM ss83696497 Dec 14, 2007 (130)
19 HUMANGENOME_JCVI ss97145446 Feb 03, 2009 (130)
20 ILLUMINA-UK ss118401756 Feb 14, 2009 (130)
21 ENSEMBL ss137273862 Dec 01, 2009 (131)
22 ILLUMINA ss153075709 Dec 01, 2009 (131)
23 GMI ss154584598 Dec 01, 2009 (131)
24 ILLUMINA ss159192531 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss167792097 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss170932426 Jul 04, 2010 (132)
27 ILLUMINA ss171642603 Jul 04, 2010 (132)
28 BUSHMAN ss199013546 Jul 04, 2010 (132)
29 BCM-HGSC-SUB ss208671747 Jul 04, 2010 (132)
30 1000GENOMES ss211380133 Jul 14, 2010 (132)
31 1000GENOMES ss226099419 Jul 14, 2010 (132)
32 1000GENOMES ss236190647 Jul 15, 2010 (132)
33 1000GENOMES ss242698145 Jul 15, 2010 (132)
34 GMI ss281653169 May 04, 2012 (137)
35 GMI ss286675352 Apr 25, 2013 (138)
36 PJP ss291564914 May 09, 2011 (134)
37 ILLUMINA ss483174061 May 04, 2012 (137)
38 ILLUMINA ss483817097 May 04, 2012 (137)
39 ILLUMINA ss536014281 Sep 08, 2015 (146)
40 TISHKOFF ss563571758 Apr 25, 2013 (138)
41 SSMP ss659167551 Apr 25, 2013 (138)
42 ILLUMINA ss780419440 Sep 08, 2015 (146)
43 ILLUMINA ss782352113 Sep 08, 2015 (146)
44 ILLUMINA ss832705008 Jul 13, 2019 (153)
45 ILLUMINA ss835908663 Sep 08, 2015 (146)
46 EVA-GONL ss990228642 Aug 21, 2014 (142)
47 JMKIDD_LAB ss1078963894 Aug 21, 2014 (142)
48 1000GENOMES ss1347620615 Aug 21, 2014 (142)
49 DDI ss1427140610 Apr 01, 2015 (144)
50 EVA_GENOME_DK ss1576695208 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1629957655 Apr 01, 2015 (144)
52 EVA_DECODE ss1642333194 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1672951688 Apr 01, 2015 (144)
54 EVA_SVP ss1713378479 Apr 01, 2015 (144)
55 HAMMER_LAB ss1807541897 Sep 08, 2015 (146)
56 WEILL_CORNELL_DGM ss1933597622 Feb 12, 2016 (147)
57 GENOMED ss1967743449 Jul 19, 2016 (147)
58 JJLAB ss2027554511 Sep 14, 2016 (149)
59 ILLUMINA ss2095042810 Dec 20, 2016 (150)
60 USC_VALOUEV ss2155919219 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2195104377 Dec 20, 2016 (150)
62 TOPMED ss2359204467 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2628265393 Nov 08, 2017 (151)
64 ILLUMINA ss2633043910 Nov 08, 2017 (151)
65 GRF ss2700291405 Nov 08, 2017 (151)
66 GNOMAD ss2917946547 Nov 08, 2017 (151)
67 SWEGEN ss3010774697 Nov 08, 2017 (151)
68 BIOINF_KMB_FNS_UNIBA ss3027592794 Nov 08, 2017 (151)
69 TOPMED ss3188787684 Nov 08, 2017 (151)
70 CSHL ss3350382077 Nov 08, 2017 (151)
71 ILLUMINA ss3627029729 Oct 12, 2018 (152)
72 ILLUMINA ss3631048148 Oct 12, 2018 (152)
73 ILLUMINA ss3638002204 Oct 12, 2018 (152)
74 ILLUMINA ss3639014025 Oct 12, 2018 (152)
75 ILLUMINA ss3639817055 Oct 12, 2018 (152)
76 ILLUMINA ss3641830010 Oct 12, 2018 (152)
77 ILLUMINA ss3642992733 Oct 12, 2018 (152)
78 ILLUMINA ss3643868151 Oct 12, 2018 (152)
79 URBANLAB ss3649996567 Oct 12, 2018 (152)
80 ILLUMINA ss3651879785 Oct 12, 2018 (152)
81 EGCUT_WGS ss3678035386 Jul 13, 2019 (153)
82 EVA_DECODE ss3694992040 Jul 13, 2019 (153)
83 ACPOP ss3739612722 Jul 13, 2019 (153)
84 EVA ss3751276156 Jul 13, 2019 (153)
85 KHV_HUMAN_GENOMES ss3816607177 Jul 13, 2019 (153)
86 EVA ss3833467073 Apr 27, 2020 (154)
87 HGDP ss3847473147 Apr 27, 2020 (154)
88 SGDP_PRJ ss3879661315 Apr 27, 2020 (154)
89 KRGDB ss3928482799 Apr 27, 2020 (154)
90 KOGIC ss3973268756 Apr 27, 2020 (154)
91 EVA ss3985630943 Apr 26, 2021 (155)
92 EVA ss4017624486 Apr 26, 2021 (155)
93 TOPMED ss4941004885 Apr 26, 2021 (155)
94 TOMMO_GENOMICS ss5209317753 Apr 26, 2021 (155)
95 1000Genomes NC_000013.10 - 29226634 Oct 12, 2018 (152)
96 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 29226634 Oct 12, 2018 (152)
97 Genetic variation in the Estonian population NC_000013.10 - 29226634 Oct 12, 2018 (152)
98 The Danish reference pan genome NC_000013.10 - 29226634 Apr 27, 2020 (154)
99 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 426392228 (NC_000013.11:28652496:A:C 2/139898)
Row 426392229 (NC_000013.11:28652496:A:G 65712/139830)

- Apr 26, 2021 (155)
100 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 426392228 (NC_000013.11:28652496:A:C 2/139898)
Row 426392229 (NC_000013.11:28652496:A:G 65712/139830)

- Apr 26, 2021 (155)
101 Genome of the Netherlands Release 5 NC_000013.10 - 29226634 Apr 27, 2020 (154)
102 HGDP-CEPH-db Supplement 1 NC_000013.9 - 28124634 Apr 27, 2020 (154)
103 HapMap NC_000013.11 - 28652497 Apr 27, 2020 (154)
104 KOREAN population from KRGDB NC_000013.10 - 29226634 Apr 27, 2020 (154)
105 Korean Genome Project NC_000013.11 - 28652497 Apr 27, 2020 (154)
106 Northern Sweden NC_000013.10 - 29226634 Jul 13, 2019 (153)
107 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000013.10 - 29226634 Apr 26, 2021 (155)
108 Qatari NC_000013.10 - 29226634 Apr 27, 2020 (154)
109 SGDP_PRJ NC_000013.10 - 29226634 Apr 27, 2020 (154)
110 Siberian NC_000013.10 - 29226634 Apr 27, 2020 (154)
111 8.3KJPN NC_000013.10 - 29226634 Apr 26, 2021 (155)
112 TopMed NC_000013.11 - 28652497 Apr 26, 2021 (155)
113 UK 10K study - Twins NC_000013.10 - 29226634 Oct 12, 2018 (152)
114 A Vietnamese Genetic Variation Database NC_000013.10 - 29226634 Jul 13, 2019 (153)
115 ALFA NC_000013.11 - 28652497 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)
rs1623049 Jan 18, 2001 (92)
rs56774582 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2959554627 NC_000013.11:28652496:A:C NC_000013.11:28652496:A:C
151039, ss81256761, ss82177021, ss118401756, ss167792097, ss170932426, ss199013546, ss208671747, ss211380133, ss281653169, ss286675352, ss291564914, ss483174061, ss1642333194, ss1713378479, ss3639014025, ss3639817055, ss3642992733, ss3643868151, ss3847473147 NC_000013.9:28124633:A:G NC_000013.11:28652496:A:G (self)
60469070, 33584555, 23773634, 3234571, 14985110, 35660193, 12897587, 856870, 15639552, 31678295, 8435573, 67287060, 33584555, 7449734, ss226099419, ss236190647, ss242698145, ss483817097, ss536014281, ss563571758, ss659167551, ss780419440, ss782352113, ss832705008, ss835908663, ss990228642, ss1078963894, ss1347620615, ss1427140610, ss1576695208, ss1629957655, ss1672951688, ss1807541897, ss1933597622, ss1967743449, ss2027554511, ss2095042810, ss2155919219, ss2359204467, ss2628265393, ss2633043910, ss2700291405, ss2917946547, ss3010774697, ss3350382077, ss3627029729, ss3631048148, ss3638002204, ss3641830010, ss3651879785, ss3678035386, ss3739612722, ss3751276156, ss3833467073, ss3879661315, ss3928482799, ss3985630943, ss4017624486, ss5209317753 NC_000013.10:29226633:A:G NC_000013.11:28652496:A:G (self)
955230, 29646757, 97896377, 156550543, 2959554627, ss2195104377, ss3027592794, ss3188787684, ss3649996567, ss3694992040, ss3816607177, ss3973268756, ss4941004885 NC_000013.11:28652496:A:G NC_000013.11:28652496:A:G (self)
ss11061903, ss13254289 NT_009799.12:10206633:A:G NC_000013.11:28652496:A:G (self)
ss21094114 NT_024524.13:10206633:A:G NC_000013.11:28652496:A:G (self)
ss1657650, ss2398814, ss2439359, ss5173158, ss5792043, ss43483813, ss66961554, ss67127103, ss68115041, ss70545118, ss71078401, ss75869276, ss83696497, ss97145446, ss137273862, ss153075709, ss154584598, ss159192531, ss171642603 NT_024524.14:10206633:A:G NC_000013.11:28652496:A:G (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 rs1185049

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.post596+ae089ad