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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.

rs11807848

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1125786 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.369168 (97715/264690, TOPMED)
C=0.375613 (52573/139966, GnomAD)
C=0.39936 (28384/71074, ALFA) (+ 17 more)
C=0.22148 (3712/16760, 8.3KJPN)
C=0.3297 (1651/5008, 1000G)
C=0.3942 (1766/4480, Estonian)
C=0.3985 (1536/3854, ALSPAC)
C=0.4048 (1501/3708, TWINSUK)
C=0.2512 (736/2930, KOREAN)
C=0.3306 (689/2084, HGDP_Stanford)
C=0.3314 (627/1892, HapMap)
C=0.2500 (458/1832, Korea1K)
C=0.433 (260/600, NorthernSweden)
T=0.398 (117/294, SGDP_PRJ)
C=0.394 (85/216, Qatari)
C=0.145 (31/214, Vietnamese)
C=0.42 (17/40, GENOME_DK)
T=0.36 (13/36, Siberian)
T=0.50 (10/20, Ancient Sardinia)
C=0.50 (10/20, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
1 citation
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 1 NC_000001.11:g.1125786T>C
GRCh38.p13 chr 1 NC_000001.11:g.1125786T>G
GRCh37.p13 chr 1 NC_000001.10:g.1061166T>C
GRCh37.p13 chr 1 NC_000001.10:g.1061166T>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 71074 T=0.60064 C=0.39936
European Sub 58746 T=0.59100 C=0.40900
African Sub 4502 T=0.6548 C=0.3452
African Others Sub 170 T=0.659 C=0.341
African American Sub 4332 T=0.6547 C=0.3453
Asian Sub 186 T=0.796 C=0.204
East Asian Sub 146 T=0.815 C=0.185
Other Asian Sub 40 T=0.72 C=0.28
Latin American 1 Sub 246 T=0.683 C=0.317
Latin American 2 Sub 1226 T=0.7031 C=0.2969
South Asian Sub 4956 T=0.6219 C=0.3781
Other Sub 1212 T=0.6295 C=0.3705


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 T=0.630832 C=0.369168
gnomAD - Genomes Global Study-wide 139966 T=0.624387 C=0.375613
gnomAD - Genomes European Sub 75808 T=0.59645 C=0.40355
gnomAD - Genomes African Sub 41934 T=0.64613 C=0.35387
gnomAD - Genomes American Sub 13630 T=0.68269 C=0.31731
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.6110 C=0.3890
gnomAD - Genomes East Asian Sub 3120 T=0.7683 C=0.2317
gnomAD - Genomes Other Sub 2150 T=0.6274 C=0.3726
8.3KJPN JAPANESE Study-wide 16760 T=0.77852 C=0.22148
1000Genomes Global Study-wide 5008 T=0.6703 C=0.3297
1000Genomes African Sub 1322 T=0.6407 C=0.3593
1000Genomes East Asian Sub 1008 T=0.7679 C=0.2321
1000Genomes Europe Sub 1006 T=0.6054 C=0.3946
1000Genomes South Asian Sub 978 T=0.637 C=0.363
1000Genomes American Sub 694 T=0.726 C=0.274
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.6058 C=0.3942
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6015 C=0.3985
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5952 C=0.4048
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7488 C=0.2512, G=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.6694 C=0.3306
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.802 C=0.198
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.640 C=0.360
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.534 C=0.466
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.616 C=0.384
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.562 C=0.438
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.810 C=0.190
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.81 C=0.19
HapMap Global Study-wide 1892 T=0.6686 C=0.3314
HapMap American Sub 770 T=0.677 C=0.323
HapMap African Sub 692 T=0.675 C=0.325
HapMap Asian Sub 254 T=0.732 C=0.268
HapMap Europe Sub 176 T=0.517 C=0.483
Korean Genome Project KOREAN Study-wide 1832 T=0.7500 C=0.2500
Northern Sweden ACPOP Study-wide 600 T=0.567 C=0.433
SGDP_PRJ Global Study-wide 294 T=0.398 C=0.602
Qatari Global Study-wide 216 T=0.606 C=0.394
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.855 C=0.145
The Danish reference pan genome Danish Study-wide 40 T=0.57 C=0.42
Siberian Global Study-wide 36 T=0.36 C=0.64
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 20 T=0.50 C=0.50
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 T= C G
GRCh38.p13 chr 1 NC_000001.11:g.1125786= NC_000001.11:g.1125786T>C NC_000001.11:g.1125786T>G
GRCh37.p13 chr 1 NC_000001.10:g.1061166= NC_000001.10:g.1061166T>C NC_000001.10:g.1061166T>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#.

87 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17360497 Feb 28, 2004 (120)
2 SSAHASNP ss20552805 Apr 05, 2004 (121)
3 PERLEGEN ss24237297 Sep 20, 2004 (123)
4 ABI ss44004860 Mar 14, 2006 (126)
5 ILLUMINA ss66958694 Nov 30, 2006 (127)
6 ILLUMINA ss67122754 Nov 30, 2006 (127)
7 ILLUMINA ss68114112 Dec 12, 2006 (127)
8 PERLEGEN ss68756318 May 17, 2007 (127)
9 ILLUMINA ss70543660 May 24, 2008 (130)
10 ILLUMINA ss71076219 May 17, 2007 (127)
11 ILLUMINA ss75554497 Dec 07, 2007 (129)
12 KRIBB_YJKIM ss85145426 Dec 15, 2007 (130)
13 BCMHGSC_JDW ss87158209 Mar 23, 2008 (129)
14 HUMANGENOME_JCVI ss99179763 Feb 05, 2009 (130)
15 BGI ss102713630 Dec 01, 2009 (131)
16 1000GENOMES ss107938576 Jan 22, 2009 (130)
17 1000GENOMES ss109941410 Jan 24, 2009 (130)
18 ENSEMBL ss137754439 Dec 01, 2009 (131)
19 ENSEMBL ss139291384 Dec 01, 2009 (131)
20 ILLUMINA ss153067742 Dec 01, 2009 (131)
21 GMI ss154528111 Dec 01, 2009 (131)
22 ILLUMINA ss159190894 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss162983495 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss163707620 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss165982747 Jul 04, 2010 (132)
26 ILLUMINA ss171598612 Jul 04, 2010 (132)
27 BUSHMAN ss197888980 Jul 04, 2010 (132)
28 BCM-HGSC-SUB ss205488520 Jul 04, 2010 (132)
29 1000GENOMES ss218191957 Jul 14, 2010 (132)
30 1000GENOMES ss230396463 Jul 14, 2010 (132)
31 1000GENOMES ss238116014 Jul 15, 2010 (132)
32 GMI ss275682484 May 04, 2012 (137)
33 GMI ss283988011 Apr 25, 2013 (138)
34 PJP ss290494367 May 09, 2011 (134)
35 ILLUMINA ss536726156 Sep 08, 2015 (146)
36 TISHKOFF ss553713698 Apr 25, 2013 (138)
37 SSMP ss647518465 Apr 25, 2013 (138)
38 ILLUMINA ss832703374 Jul 12, 2019 (153)
39 EVA-GONL ss974772081 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1067613738 Aug 21, 2014 (142)
41 1000GENOMES ss1289350632 Aug 21, 2014 (142)
42 DDI ss1425685883 Apr 01, 2015 (144)
43 EVA_GENOME_DK ss1573852048 Apr 01, 2015 (144)
44 EVA_DECODE ss1584131999 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1599382731 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1642376764 Apr 01, 2015 (144)
47 EVA_SVP ss1712305552 Apr 01, 2015 (144)
48 HAMMER_LAB ss1793717123 Sep 08, 2015 (146)
49 WEILL_CORNELL_DGM ss1917963990 Feb 12, 2016 (147)
50 GENOMED ss1966667746 Jul 19, 2016 (147)
51 JJLAB ss2019499871 Sep 14, 2016 (149)
52 USC_VALOUEV ss2147486655 Dec 20, 2016 (150)
53 HUMAN_LONGEVITY ss2159386845 Dec 20, 2016 (150)
54 TOPMED ss2321526158 Dec 20, 2016 (150)
55 SYSTEMSBIOZJU ss2624265558 Nov 08, 2017 (151)
56 GRF ss2697377582 Nov 08, 2017 (151)
57 GNOMAD ss2750672758 Nov 08, 2017 (151)
58 SWEGEN ss2986154490 Nov 08, 2017 (151)
59 BIOINF_KMB_FNS_UNIBA ss3023514318 Nov 08, 2017 (151)
60 TOPMED ss3066474290 Nov 08, 2017 (151)
61 CSHL ss3343274330 Nov 08, 2017 (151)
62 ILLUMINA ss3626007110 Oct 11, 2018 (152)
63 ILLUMINA ss3637732504 Oct 11, 2018 (152)
64 ILLUMINA ss3638887869 Oct 11, 2018 (152)
65 ILLUMINA ss3639756839 Oct 11, 2018 (152)
66 ILLUMINA ss3642746780 Oct 11, 2018 (152)
67 ILLUMINA ss3643810770 Oct 11, 2018 (152)
68 URBANLAB ss3646581953 Oct 11, 2018 (152)
69 EGCUT_WGS ss3654265589 Jul 12, 2019 (153)
70 EVA_DECODE ss3685998142 Jul 12, 2019 (153)
71 ACPOP ss3726718769 Jul 12, 2019 (153)
72 EVA ss3745724409 Jul 12, 2019 (153)
73 PACBIO ss3783303042 Jul 12, 2019 (153)
74 PACBIO ss3788980818 Jul 12, 2019 (153)
75 PACBIO ss3793853367 Jul 12, 2019 (153)
76 KHV_HUMAN_GENOMES ss3798747012 Jul 12, 2019 (153)
77 EVA ss3825982649 Apr 25, 2020 (154)
78 EVA ss3836379023 Apr 25, 2020 (154)
79 EVA ss3841783050 Apr 25, 2020 (154)
80 HGDP ss3847322121 Apr 25, 2020 (154)
81 SGDP_PRJ ss3848004166 Apr 25, 2020 (154)
82 KRGDB ss3892846983 Apr 25, 2020 (154)
83 KOGIC ss3943636503 Apr 25, 2020 (154)
84 EVA ss3984774098 Apr 25, 2021 (155)
85 EVA ss4016889122 Apr 25, 2021 (155)
86 TOPMED ss4436522636 Apr 25, 2021 (155)
87 TOMMO_GENOMICS ss5142067307 Apr 25, 2021 (155)
88 1000Genomes NC_000001.10 - 1061166 Oct 11, 2018 (152)
89 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1061166 Oct 11, 2018 (152)
90 Genetic variation in the Estonian population NC_000001.10 - 1061166 Oct 11, 2018 (152)
91 The Danish reference pan genome NC_000001.10 - 1061166 Apr 25, 2020 (154)
92 gnomAD - Genomes NC_000001.11 - 1125786 Apr 25, 2021 (155)
93 HGDP-CEPH-db Supplement 1 NC_000001.9 - 1051029 Apr 25, 2020 (154)
94 HapMap NC_000001.11 - 1125786 Apr 25, 2020 (154)
95 KOREAN population from KRGDB NC_000001.10 - 1061166 Apr 25, 2020 (154)
96 Korean Genome Project NC_000001.11 - 1125786 Apr 25, 2020 (154)
97 Northern Sweden NC_000001.10 - 1061166 Jul 12, 2019 (153)
98 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 1061166 Apr 25, 2021 (155)
99 Qatari NC_000001.10 - 1061166 Apr 25, 2020 (154)
100 SGDP_PRJ NC_000001.10 - 1061166 Apr 25, 2020 (154)
101 Siberian NC_000001.10 - 1061166 Apr 25, 2020 (154)
102 8.3KJPN NC_000001.10 - 1061166 Apr 25, 2021 (155)
103 TopMed NC_000001.11 - 1125786 Apr 25, 2021 (155)
104 UK 10K study - Twins NC_000001.10 - 1061166 Oct 11, 2018 (152)
105 A Vietnamese Genetic Variation Database NC_000001.10 - 1061166 Jul 12, 2019 (153)
106 ALFA NC_000001.11 - 1125786 Apr 25, 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)
rs17362403 Oct 07, 2004 (123)
rs58512913 May 24, 2008 (130)
rs386521363 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638887869, ss3639756839, ss3643810770 NC_000001.8:1101088:T:C NC_000001.11:1125785:T:C (self)
13, ss87158209, ss107938576, ss109941410, ss162983495, ss163707620, ss165982747, ss197888980, ss205488520, ss275682484, ss283988011, ss290494367, ss1584131999, ss1712305552, ss3642746780, ss3847322121 NC_000001.9:1051028:T:C NC_000001.11:1125785:T:C (self)
15767, 5128, 3837, 1359282, 24377, 3634, 25, 5920, 21146, 3009, 36614, 5128, 1142, ss218191957, ss230396463, ss238116014, ss536726156, ss553713698, ss647518465, ss832703374, ss974772081, ss1067613738, ss1289350632, ss1425685883, ss1573852048, ss1599382731, ss1642376764, ss1793717123, ss1917963990, ss1966667746, ss2019499871, ss2147486655, ss2321526158, ss2624265558, ss2697377582, ss2750672758, ss2986154490, ss3343274330, ss3626007110, ss3637732504, ss3654265589, ss3726718769, ss3745724409, ss3783303042, ss3788980818, ss3793853367, ss3825982649, ss3836379023, ss3848004166, ss3892846983, ss3984774098, ss4016889122, ss5142067307 NC_000001.10:1061165:T:C NC_000001.11:1125785:T:C (self)
144087, 226, 14504, 73039, 128971, 6649427903, ss2159386845, ss3023514318, ss3066474290, ss3646581953, ss3685998142, ss3798747012, ss3841783050, ss3943636503, ss4436522636 NC_000001.11:1125785:T:C NC_000001.11:1125785:T:C (self)
ss24237297, ss44004860, ss66958694, ss67122754, ss68114112, ss68756318, ss70543660, ss71076219, ss75554497, ss85145426, ss99179763, ss102713630, ss137754439, ss139291384, ss153067742, ss154528111, ss159190894, ss171598612 NT_004350.19:539797:T:C NC_000001.11:1125785:T:C (self)
ss17360497, ss20552805 NT_077913.2:64876:T:C NC_000001.11:1125785:T:C (self)
24377, ss3892846983 NC_000001.10:1061165:T:G NC_000001.11:1125785:T:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs11807848
PMID Title Author Year Journal
21492446 A Monte Carlo test of linkage disequilibrium for single nucleotide polymorphisms. Xu H et al. 2011 BMC research notes
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