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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.

rs112886081

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:57234426 (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=0.038808 (10272/264690, TOPMED)
A=0.040867 (5730/140212, GnomAD)
A=0.00004 (1/28258, 14KJPN) (+ 15 more)
A=0.05320 (1021/19190, ALFA)
A=0.00006 (1/16758, 8.3KJPN)
A=0.0170 (109/6404, 1000G_30x)
A=0.0160 (80/5008, 1000G)
A=0.0699 (313/4480, Estonian)
A=0.0568 (219/3854, ALSPAC)
A=0.0542 (201/3708, TWINSUK)
A=0.055 (55/998, GoNL)
A=0.058 (35/600, NorthernSweden)
A=0.028 (6/216, Qatari)
A=0.07 (3/40, GENOME_DK)
G=0.50 (10/20, SGDP_PRJ)
A=0.50 (10/20, SGDP_PRJ)
G=0.5 (4/8, Siberian)
A=0.5 (4/8, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
APLNR : Intron Variant
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 19190 G=0.94680 A=0.05320
European Sub 14286 G=0.93532 A=0.06468
African Sub 2970 G=0.9889 A=0.0111
African Others Sub 114 G=1.000 A=0.000
African American Sub 2856 G=0.9884 A=0.0116
Asian Sub 116 G=1.000 A=0.000
East Asian Sub 88 G=1.00 A=0.00
Other Asian Sub 28 G=1.00 A=0.00
Latin American 1 Sub 154 G=0.961 A=0.039
Latin American 2 Sub 616 G=0.964 A=0.036
South Asian Sub 98 G=0.98 A=0.02
Other Sub 950 G=0.964 A=0.036


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=0.961192 A=0.038808
gnomAD - Genomes Global Study-wide 140212 G=0.959133 A=0.040867
gnomAD - Genomes European Sub 75898 G=0.94088 A=0.05912
gnomAD - Genomes African Sub 42044 G=0.98994 A=0.01006
gnomAD - Genomes American Sub 13660 G=0.96091 A=0.03909
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9461 A=0.0539
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.9503 A=0.0497
14KJPN JAPANESE Study-wide 28258 G=0.99996 A=0.00004
Allele Frequency Aggregator Total Global 19190 G=0.94680 A=0.05320
Allele Frequency Aggregator European Sub 14286 G=0.93532 A=0.06468
Allele Frequency Aggregator African Sub 2970 G=0.9889 A=0.0111
Allele Frequency Aggregator Other Sub 950 G=0.964 A=0.036
Allele Frequency Aggregator Latin American 2 Sub 616 G=0.964 A=0.036
Allele Frequency Aggregator Latin American 1 Sub 154 G=0.961 A=0.039
Allele Frequency Aggregator Asian Sub 116 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=0.98 A=0.02
8.3KJPN JAPANESE Study-wide 16758 G=0.99994 A=0.00006
1000Genomes_30x Global Study-wide 6404 G=0.9830 A=0.0170
1000Genomes_30x African Sub 1786 G=0.9972 A=0.0028
1000Genomes_30x Europe Sub 1266 G=0.9479 A=0.0521
1000Genomes_30x South Asian Sub 1202 G=0.9892 A=0.0108
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.974 A=0.026
1000Genomes Global Study-wide 5008 G=0.9840 A=0.0160
1000Genomes African Sub 1322 G=0.9977 A=0.0023
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9513 A=0.0487
1000Genomes South Asian Sub 978 G=0.988 A=0.012
1000Genomes American Sub 694 G=0.977 A=0.023
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9301 A=0.0699
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9432 A=0.0568
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9458 A=0.0542
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.945 A=0.055
Northern Sweden ACPOP Study-wide 600 G=0.942 A=0.058
Qatari Global Study-wide 216 G=0.972 A=0.028
The Danish reference pan genome Danish Study-wide 40 G=0.93 A=0.07
SGDP_PRJ Global Study-wide 20 G=0.50 A=0.50
Siberian Global Study-wide 8 G=0.5 A=0.5
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 11 NC_000011.10:g.57234426G>A
GRCh37.p13 chr 11 NC_000011.9:g.57001900G>A
Gene: APLNR, apelin receptor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
APLNR transcript variant 1 NM_005161.6:c.*1436= N/A 3 Prime UTR Variant
APLNR transcript variant 2 NR_027991.2:n. N/A Intron 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 G= A
GRCh38.p14 chr 11 NC_000011.10:g.57234426= NC_000011.10:g.57234426G>A
GRCh37.p13 chr 11 NC_000011.9:g.57001900= NC_000011.9:g.57001900G>A
APLNR transcript variant 1 NM_005161.6:c.*1436= NM_005161.6:c.*1436C>T
APLNR transcript variant 1 NM_005161.5:c.*1436= NM_005161.5:c.*1436C>T
APLNR transcript variant 1 NM_005161.4:c.*1436= NM_005161.4:c.*1436C>T
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#.

36 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 COMPLETE_GENOMICS ss175145242 Jul 04, 2010 (132)
2 1000GENOMES ss235573667 Jul 15, 2010 (132)
3 ILLUMINA ss533390996 Sep 08, 2015 (146)
4 EVA-GONL ss988555207 Aug 21, 2014 (142)
5 1000GENOMES ss1341397930 Aug 21, 2014 (142)
6 EVA_GENOME_DK ss1575733729 Apr 01, 2015 (144)
7 EVA_DECODE ss1598217828 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1626655013 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1669649046 Apr 01, 2015 (144)
10 WEILL_CORNELL_DGM ss1931915415 Feb 12, 2016 (147)
11 JJLAB ss2026704562 Sep 14, 2016 (149)
12 USC_VALOUEV ss2155005976 Dec 20, 2016 (150)
13 HUMAN_LONGEVITY ss2182588645 Dec 20, 2016 (150)
14 GNOMAD ss2900001430 Nov 08, 2017 (151)
15 SWEGEN ss3008146287 Nov 08, 2017 (151)
16 BIOINF_KMB_FNS_UNIBA ss3027151085 Nov 08, 2017 (151)
17 CSHL ss3349616354 Nov 08, 2017 (151)
18 ILLUMINA ss3626663400 Oct 12, 2018 (152)
19 EGCUT_WGS ss3675485446 Jul 13, 2019 (153)
20 EVA_DECODE ss3691847200 Jul 13, 2019 (153)
21 ACPOP ss3738207731 Jul 13, 2019 (153)
22 EVA ss3749334598 Jul 13, 2019 (153)
23 EVA ss3832645304 Apr 26, 2020 (154)
24 SGDP_PRJ ss3876323503 Apr 26, 2020 (154)
25 FSA-LAB ss3984002697 Apr 26, 2021 (155)
26 TOPMED ss4886307604 Apr 26, 2021 (155)
27 TOMMO_GENOMICS ss5202114167 Apr 26, 2021 (155)
28 1000G_HIGH_COVERAGE ss5287525953 Oct 16, 2022 (156)
29 EVA ss5399765800 Oct 16, 2022 (156)
30 HUGCELL_USP ss5482695109 Oct 16, 2022 (156)
31 1000G_HIGH_COVERAGE ss5583305856 Oct 16, 2022 (156)
32 SANFORD_IMAGENETICS ss5651287352 Oct 16, 2022 (156)
33 TOMMO_GENOMICS ss5750030140 Oct 16, 2022 (156)
34 EVA ss5836703518 Oct 16, 2022 (156)
35 EVA ss5920098096 Oct 16, 2022 (156)
36 EVA ss5942599202 Oct 16, 2022 (156)
37 1000Genomes NC_000011.9 - 57001900 Oct 12, 2018 (152)
38 1000Genomes_30x NC_000011.10 - 57234426 Oct 16, 2022 (156)
39 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 57001900 Oct 12, 2018 (152)
40 Genetic variation in the Estonian population NC_000011.9 - 57001900 Oct 12, 2018 (152)
41 The Danish reference pan genome NC_000011.9 - 57001900 Apr 26, 2020 (154)
42 gnomAD - Genomes NC_000011.10 - 57234426 Apr 26, 2021 (155)
43 Genome of the Netherlands Release 5 NC_000011.9 - 57001900 Apr 26, 2020 (154)
44 Northern Sweden NC_000011.9 - 57001900 Jul 13, 2019 (153)
45 Qatari NC_000011.9 - 57001900 Apr 26, 2020 (154)
46 SGDP_PRJ NC_000011.9 - 57001900 Apr 26, 2020 (154)
47 Siberian NC_000011.9 - 57001900 Apr 26, 2020 (154)
48 8.3KJPN NC_000011.9 - 57001900 Apr 26, 2021 (155)
49 14KJPN NC_000011.10 - 57234426 Oct 16, 2022 (156)
50 TopMed NC_000011.10 - 57234426 Apr 26, 2021 (155)
51 UK 10K study - Twins NC_000011.9 - 57001900 Oct 12, 2018 (152)
52 ALFA NC_000011.10 - 57234426 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
ss175145242, ss1598217828 NC_000011.8:56758475:G:A NC_000011.10:57234425:G:A (self)
53924617, 29945364, 21223694, 2581454, 13365205, 11492596, 13957345, 28340483, 7522330, 60083474, 29945364, ss235573667, ss533390996, ss988555207, ss1341397930, ss1575733729, ss1626655013, ss1669649046, ss1931915415, ss2026704562, ss2155005976, ss2900001430, ss3008146287, ss3349616354, ss3626663400, ss3675485446, ss3738207731, ss3749334598, ss3832645304, ss3876323503, ss3984002697, ss5202114167, ss5399765800, ss5651287352, ss5836703518, ss5942599202 NC_000011.9:57001899:G:A NC_000011.10:57234425:G:A (self)
70831791, 380612296, 83867244, 101853260, 3340454474, ss2182588645, ss3027151085, ss3691847200, ss4886307604, ss5287525953, ss5482695109, ss5583305856, ss5750030140, ss5920098096 NC_000011.10:57234425:G:A NC_000011.10:57234425: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 rs112886081

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