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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.

rs11845208

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:48994281 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.020518 (5431/264690, TOPMED)
G=0.019032 (2662/139870, GnomAD)
G=0.004009 (547/136428, ALFA) (+ 8 more)
G=0.02885 (2270/78694, PAGE_STUDY)
G=0.0195 (125/6404, 1000G_30x)
G=0.0190 (95/5008, 1000G)
G=0.0139 (29/2084, HGDP_Stanford)
G=0.0365 (40/1096, HapMap)
G=0.005 (1/216, Qatari)
G=0.00 (0/54, Ancient Sardinia)
A=0.38 (9/24, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC105378178 : Intron Variant
Publications
1 citation
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 136428 A=0.995991 G=0.004009
European Sub 117232 A=0.999881 G=0.000119
African Sub 7366 A=0.9352 G=0.0648
African Others Sub 264 A=0.905 G=0.095
African American Sub 7102 A=0.9364 G=0.0636
Asian Sub 3680 A=1.0000 G=0.0000
East Asian Sub 3012 A=1.0000 G=0.0000
Other Asian Sub 668 A=1.000 G=0.000
Latin American 1 Sub 812 A=0.988 G=0.012
Latin American 2 Sub 1160 A=0.9974 G=0.0026
South Asian Sub 344 A=1.000 G=0.000
Other Sub 5834 A=0.9926 G=0.0074


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=0.979482 G=0.020518
gnomAD - Genomes Global Study-wide 139870 A=0.980968 G=0.019032
gnomAD - Genomes European Sub 75772 A=0.99983 G=0.00017
gnomAD - Genomes African Sub 41968 A=0.93905 G=0.06095
gnomAD - Genomes American Sub 13576 A=0.99484 G=0.00516
gnomAD - Genomes Ashkenazi Jewish Sub 3312 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3100 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2142 A=0.9902 G=0.0098
Allele Frequency Aggregator Total Global 136428 A=0.995991 G=0.004009
Allele Frequency Aggregator European Sub 117232 A=0.999881 G=0.000119
Allele Frequency Aggregator African Sub 7366 A=0.9352 G=0.0648
Allele Frequency Aggregator Other Sub 5834 A=0.9926 G=0.0074
Allele Frequency Aggregator Asian Sub 3680 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 1160 A=0.9974 G=0.0026
Allele Frequency Aggregator Latin American 1 Sub 812 A=0.988 G=0.012
Allele Frequency Aggregator South Asian Sub 344 A=1.000 G=0.000
The PAGE Study Global Study-wide 78694 A=0.97115 G=0.02885
The PAGE Study AfricanAmerican Sub 32514 A=0.94119 G=0.05881
The PAGE Study Mexican Sub 10810 A=0.99658 G=0.00342
The PAGE Study Asian Sub 8316 A=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7916 A=0.9864 G=0.0136
The PAGE Study NativeHawaiian Sub 4534 A=0.9989 G=0.0011
The PAGE Study Cuban Sub 4228 A=0.9891 G=0.0109
The PAGE Study Dominican Sub 3828 A=0.9697 G=0.0303
The PAGE Study CentralAmerican Sub 2450 A=0.9910 G=0.0090
The PAGE Study SouthAmerican Sub 1982 A=0.9960 G=0.0040
The PAGE Study NativeAmerican Sub 1260 A=0.9873 G=0.0127
The PAGE Study SouthAsian Sub 856 A=1.000 G=0.000
1000Genomes_30x Global Study-wide 6404 A=0.9805 G=0.0195
1000Genomes_30x African Sub 1786 A=0.9323 G=0.0677
1000Genomes_30x Europe Sub 1266 A=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 A=1.0000 G=0.0000
1000Genomes_30x East Asian Sub 1170 A=1.0000 G=0.0000
1000Genomes_30x American Sub 980 A=0.996 G=0.004
1000Genomes Global Study-wide 5008 A=0.9810 G=0.0190
1000Genomes African Sub 1322 A=0.9304 G=0.0696
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=1.0000 G=0.0000
1000Genomes South Asian Sub 978 A=1.000 G=0.000
1000Genomes American Sub 694 A=0.996 G=0.004
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.9861 G=0.0139
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.989 G=0.011
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.897 G=0.103
HGDP-CEPH-db Supplement 1 America Sub 216 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=1.00 G=0.00
HapMap Global Study-wide 1096 A=0.9635 G=0.0365
HapMap African Sub 692 A=0.948 G=0.052
HapMap American Sub 314 A=0.987 G=0.013
HapMap Asian Sub 90 A=1.00 G=0.00
Qatari Global Study-wide 216 A=0.995 G=0.005
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 54 A=1.00 G=0.00
SGDP_PRJ Global Study-wide 24 A=0.38 G=0.62
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 14 NC_000014.9:g.48994281A>G
GRCh37.p13 chr 14 NC_000014.8:g.49463484A>G
Gene: LOC105378178, uncharacterized LOC105378178 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105378178 transcript variant X1 XR_007064152.1:n. N/A Intron Variant
LOC105378178 transcript variant X2 XR_007064153.1:n. N/A Genic Downstream Transcript Variant
LOC105378178 transcript variant X3 XR_943837.3:n. N/A Genic Downstream Transcript Variant
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= G
GRCh38.p14 chr 14 NC_000014.9:g.48994281= NC_000014.9:g.48994281A>G
GRCh37.p13 chr 14 NC_000014.8:g.49463484= NC_000014.8:g.49463484A>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#.

51 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17510689 Feb 28, 2004 (120)
2 ABI ss43614924 Mar 14, 2006 (126)
3 ILLUMINA ss67126471 Dec 01, 2006 (127)
4 ILLUMINA ss71078086 May 17, 2007 (127)
5 ILLUMINA ss75346123 Dec 07, 2007 (129)
6 ILLUMINA-UK ss118450370 Feb 14, 2009 (130)
7 KRIBB_YJKIM ss119721018 Dec 01, 2009 (131)
8 ILLUMINA ss160009648 Dec 01, 2009 (131)
9 ENSEMBL ss161656388 Dec 01, 2009 (131)
10 ILLUMINA ss171636382 Jul 04, 2010 (132)
11 BUSHMAN ss200046367 Jul 04, 2010 (132)
12 1000GENOMES ss226558599 Jul 14, 2010 (132)
13 ILLUMINA ss480104356 Sep 08, 2015 (146)
14 ILLUMINA ss536729478 Sep 08, 2015 (146)
15 TISHKOFF ss564079190 Apr 25, 2013 (138)
16 JMKIDD_LAB ss1079638309 Aug 21, 2014 (142)
17 1000GENOMES ss1350923688 Aug 21, 2014 (142)
18 HAMMER_LAB ss1807915320 Sep 08, 2015 (146)
19 WEILL_CORNELL_DGM ss1934501518 Feb 12, 2016 (147)
20 ILLUMINA ss1946376038 Feb 12, 2016 (147)
21 ILLUMINA ss1959553001 Feb 12, 2016 (147)
22 HUMAN_LONGEVITY ss2201814859 Dec 20, 2016 (150)
23 ILLUMINA ss2633147441 Nov 08, 2017 (151)
24 ILLUMINA ss2710798933 Nov 08, 2017 (151)
25 GNOMAD ss2927471227 Nov 08, 2017 (151)
26 ILLUMINA ss3021567040 Nov 08, 2017 (151)
27 ILLUMINA ss3625657993 Oct 12, 2018 (152)
28 ILLUMINA ss3627212931 Oct 12, 2018 (152)
29 ILLUMINA ss3636264847 Oct 12, 2018 (152)
30 ILLUMINA ss3638048986 Oct 12, 2018 (152)
31 ILLUMINA ss3643035768 Oct 12, 2018 (152)
32 ILLUMINA ss3644629147 Oct 12, 2018 (152)
33 ILLUMINA ss3651959758 Oct 12, 2018 (152)
34 ILLUMINA ss3725445992 Jul 13, 2019 (153)
35 ILLUMINA ss3744121826 Jul 13, 2019 (153)
36 PAGE_CC ss3771787383 Jul 13, 2019 (153)
37 KHV_HUMAN_GENOMES ss3817631292 Jul 13, 2019 (153)
38 HGDP ss3847502455 Apr 27, 2020 (154)
39 SGDP_PRJ ss3881465577 Apr 27, 2020 (154)
40 EVA ss3985678150 Apr 26, 2021 (155)
41 EVA ss4017668800 Apr 26, 2021 (155)
42 TOPMED ss4969959016 Apr 26, 2021 (155)
43 1000G_HIGH_COVERAGE ss5296152528 Oct 16, 2022 (156)
44 EVA ss5415138048 Oct 16, 2022 (156)
45 HUGCELL_USP ss5490202861 Oct 16, 2022 (156)
46 1000G_HIGH_COVERAGE ss5596404571 Oct 16, 2022 (156)
47 SANFORD_IMAGENETICS ss5624342809 Oct 16, 2022 (156)
48 SANFORD_IMAGENETICS ss5656182713 Oct 16, 2022 (156)
49 EVA ss5847719532 Oct 16, 2022 (156)
50 EVA ss5901257126 Oct 16, 2022 (156)
51 EVA ss5947608641 Oct 16, 2022 (156)
52 1000Genomes NC_000014.8 - 49463484 Oct 12, 2018 (152)
53 1000Genomes_30x NC_000014.9 - 48994281 Oct 16, 2022 (156)
54 gnomAD - Genomes NC_000014.9 - 48994281 Apr 26, 2021 (155)
55 HGDP-CEPH-db Supplement 1 NC_000014.7 - 48533234 Apr 27, 2020 (154)
56 HapMap NC_000014.9 - 48994281 Apr 27, 2020 (154)
57 The PAGE Study NC_000014.9 - 48994281 Jul 13, 2019 (153)
58 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000014.8 - 49463484 Apr 26, 2021 (155)
59 Qatari NC_000014.8 - 49463484 Apr 27, 2020 (154)
60 SGDP_PRJ NC_000014.8 - 49463484 Apr 27, 2020 (154)
61 TopMed NC_000014.9 - 48994281 Apr 26, 2021 (155)
62 ALFA NC_000014.9 - 48994281 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
180347, ss118450370, ss200046367, ss3643035768, ss3847502455 NC_000014.7:48533233:A:G NC_000014.9:48994280:A:G (self)
63901177, 904077, 16543448, 33482557, ss226558599, ss480104356, ss536729478, ss564079190, ss1079638309, ss1350923688, ss1807915320, ss1934501518, ss1946376038, ss1959553001, ss2633147441, ss2710798933, ss2927471227, ss3021567040, ss3625657993, ss3627212931, ss3636264847, ss3638048986, ss3644629147, ss3651959758, ss3744121826, ss3881465577, ss3985678150, ss4017668800, ss5415138048, ss5624342809, ss5656182713, ss5847719532, ss5947608641 NC_000014.8:49463483:A:G NC_000014.9:48994280:A:G (self)
83930506, 450602699, 1140516, 1008852, 185504675, 9577714157, ss2201814859, ss3725445992, ss3771787383, ss3817631292, ss4969959016, ss5296152528, ss5490202861, ss5596404571, ss5901257126 NC_000014.9:48994280:A:G NC_000014.9:48994280:A:G (self)
ss17510689 NT_026437.10:29383521:A:G NC_000014.9:48994280:A:G (self)
ss43614924, ss67126471, ss71078086, ss75346123, ss119721018, ss160009648, ss161656388, ss171636382 NT_026437.12:30463483:A:G NC_000014.9:48994280: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.

1 citation for rs11845208
PMID Title Author Year Journal
22610502 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. Kennedy RB et al. 2012 Human genetics
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