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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.

rs12361806

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:27598022 (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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.271759 (71932/264690, TOPMED)
A=0.26325 (7439/28258, 14KJPN)
A=0.16025 (4121/25716, ALFA) (+ 16 more)
A=0.26554 (4450/16758, 8.3KJPN)
A=0.2495 (1598/6404, 1000G_30x)
A=0.2484 (1244/5008, 1000G)
A=0.1982 (888/4480, Estonian)
A=0.2247 (866/3854, ALSPAC)
A=0.2236 (829/3708, TWINSUK)
A=0.2802 (821/2930, KOREAN)
A=0.2762 (506/1832, Korea1K)
A=0.245 (245/998, GoNL)
A=0.253 (152/600, NorthernSweden)
A=0.232 (72/310, HapMap)
G=0.373 (82/220, SGDP_PRJ)
A=0.227 (49/216, Qatari)
A=0.195 (41/210, Vietnamese)
A=0.17 (7/40, GENOME_DK)
G=0.45 (9/20, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BDNF-AS : 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 25716 G=0.83975 A=0.16025, T=0.00000
European Sub 21812 G=0.83064 A=0.16936, T=0.00000
African Sub 1728 G=0.9311 A=0.0689, T=0.0000
African Others Sub 60 G=0.88 A=0.12, T=0.00
African American Sub 1668 G=0.9329 A=0.0671, T=0.0000
Asian Sub 80 G=0.90 A=0.10, T=0.00
East Asian Sub 56 G=0.88 A=0.12, T=0.00
Other Asian Sub 24 G=0.96 A=0.04, T=0.00
Latin American 1 Sub 100 G=0.90 A=0.10, T=0.00
Latin American 2 Sub 296 G=0.905 A=0.095, T=0.000
South Asian Sub 86 G=0.97 A=0.03, T=0.00
Other Sub 1614 G=0.8395 A=0.1605, T=0.0000


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=0.728241 A=0.271759
14KJPN JAPANESE Study-wide 28258 G=0.73675 A=0.26325
Allele Frequency Aggregator Total Global 25716 G=0.83975 A=0.16025, T=0.00000
Allele Frequency Aggregator European Sub 21812 G=0.83064 A=0.16936, T=0.00000
Allele Frequency Aggregator African Sub 1728 G=0.9311 A=0.0689, T=0.0000
Allele Frequency Aggregator Other Sub 1614 G=0.8395 A=0.1605, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 296 G=0.905 A=0.095, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 100 G=0.90 A=0.10, T=0.00
Allele Frequency Aggregator South Asian Sub 86 G=0.97 A=0.03, T=0.00
Allele Frequency Aggregator Asian Sub 80 G=0.90 A=0.10, T=0.00
8.3KJPN JAPANESE Study-wide 16758 G=0.73446 A=0.26554
1000Genomes_30x Global Study-wide 6404 G=0.7505 A=0.2495
1000Genomes_30x African Sub 1786 G=0.6792 A=0.3208
1000Genomes_30x Europe Sub 1266 G=0.7938 A=0.2062
1000Genomes_30x South Asian Sub 1202 G=0.8744 A=0.1256
1000Genomes_30x East Asian Sub 1170 G=0.7829 A=0.2171
1000Genomes_30x American Sub 980 G=0.634 A=0.366
1000Genomes Global Study-wide 5008 G=0.7516 A=0.2484
1000Genomes African Sub 1322 G=0.6717 A=0.3283
1000Genomes East Asian Sub 1008 G=0.7788 A=0.2212
1000Genomes Europe Sub 1006 G=0.7942 A=0.2058
1000Genomes South Asian Sub 978 G=0.874 A=0.126
1000Genomes American Sub 694 G=0.630 A=0.370
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8018 A=0.1982
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7753 A=0.2247
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7764 A=0.2236
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7198 A=0.2802
Korean Genome Project KOREAN Study-wide 1832 G=0.7238 A=0.2762
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.755 A=0.245
Northern Sweden ACPOP Study-wide 600 G=0.747 A=0.253
HapMap Global Study-wide 310 G=0.768 A=0.232
HapMap African Sub 116 G=0.716 A=0.284
HapMap American Sub 114 G=0.772 A=0.228
HapMap Asian Sub 80 G=0.84 A=0.16
SGDP_PRJ Global Study-wide 220 G=0.373 A=0.627
Qatari Global Study-wide 216 G=0.773 A=0.227
A Vietnamese Genetic Variation Database Global Study-wide 210 G=0.805 A=0.195
The Danish reference pan genome Danish Study-wide 40 G=0.82 A=0.17
Siberian Global Study-wide 20 G=0.45 A=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 11 NC_000011.10:g.27598022G>A
GRCh38.p14 chr 11 NC_000011.10:g.27598022G>T
GRCh37.p13 chr 11 NC_000011.9:g.27619569G>A
GRCh37.p13 chr 11 NC_000011.9:g.27619569G>T
Gene: BDNF-AS, BDNF antisense RNA (plus strand)
Molecule type Change Amino acid[Codon] SO Term
BDNF-AS transcript variant BT2B NR_002832.2:n. N/A Intron Variant
BDNF-AS transcript variant BT1C NR_033312.1:n. N/A Intron Variant
BDNF-AS transcript variant BT1A NR_033313.1:n. N/A Intron Variant
BDNF-AS transcript variant BT2A NR_033314.1:n. N/A Intron Variant
BDNF-AS transcript variant BT1B NR_033315.1: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 T
GRCh38.p14 chr 11 NC_000011.10:g.27598022= NC_000011.10:g.27598022G>A NC_000011.10:g.27598022G>T
GRCh37.p13 chr 11 NC_000011.9:g.27619569= NC_000011.9:g.27619569G>A NC_000011.9:g.27619569G>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#.

68 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18919371 Feb 28, 2004 (120)
2 1000GENOMES ss114394361 Jan 25, 2009 (130)
3 ILLUMINA-UK ss119763271 Dec 01, 2009 (131)
4 GMI ss156097732 Dec 01, 2009 (131)
5 COMPLETE_GENOMICS ss169481337 Jul 04, 2010 (132)
6 BUSHMAN ss202533297 Jul 04, 2010 (132)
7 BCM-HGSC-SUB ss207846079 Jul 04, 2010 (132)
8 1000GENOMES ss225163452 Jul 14, 2010 (132)
9 1000GENOMES ss235499388 Jul 15, 2010 (132)
10 1000GENOMES ss242143788 Jul 15, 2010 (132)
11 GMI ss280938931 May 04, 2012 (137)
12 GMI ss286344087 Apr 25, 2013 (138)
13 ILLUMINA ss410788879 Sep 17, 2011 (135)
14 ILLUMINA ss482808570 May 04, 2012 (137)
15 ILLUMINA ss484125577 May 04, 2012 (137)
16 ILLUMINA ss536315735 Sep 08, 2015 (146)
17 TISHKOFF ss562466889 Apr 25, 2013 (138)
18 SSMP ss657957230 Apr 25, 2013 (138)
19 ILLUMINA ss780536241 Sep 08, 2015 (146)
20 ILLUMINA ss782508262 Sep 08, 2015 (146)
21 ILLUMINA ss836027967 Sep 08, 2015 (146)
22 EVA-GONL ss988345858 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1077605719 Aug 21, 2014 (142)
24 1000GENOMES ss1340607267 Aug 21, 2014 (142)
25 DDI ss1426582791 Apr 01, 2015 (144)
26 EVA_GENOME_DK ss1575612285 Apr 01, 2015 (144)
27 EVA_DECODE ss1598021937 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1626249799 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1669243832 Apr 01, 2015 (144)
30 HAMMER_LAB ss1806751751 Sep 08, 2015 (146)
31 WEILL_CORNELL_DGM ss1931707112 Feb 12, 2016 (147)
32 GENOMED ss1967328397 Jul 19, 2016 (147)
33 JJLAB ss2026601277 Sep 14, 2016 (149)
34 USC_VALOUEV ss2154889877 Dec 20, 2016 (150)
35 HUMAN_LONGEVITY ss2181185843 Dec 20, 2016 (150)
36 SYSTEMSBIOZJU ss2627773580 Nov 08, 2017 (151)
37 ILLUMINA ss2632817928 Nov 08, 2017 (151)
38 GRF ss2699167633 Nov 08, 2017 (151)
39 GNOMAD ss2897696288 Nov 08, 2017 (151)
40 SWEGEN ss3007801137 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3027099243 Nov 08, 2017 (151)
42 CSHL ss3349517450 Nov 08, 2017 (151)
43 ILLUMINA ss3626628114 Oct 12, 2018 (152)
44 ILLUMINA ss3630836251 Oct 12, 2018 (152)
45 ILLUMINA ss3641727505 Oct 12, 2018 (152)
46 EGCUT_WGS ss3675203103 Jul 13, 2019 (153)
47 EVA_DECODE ss3691459106 Jul 13, 2019 (153)
48 ACPOP ss3738036275 Jul 13, 2019 (153)
49 EVA ss3749096083 Jul 13, 2019 (153)
50 KHV_HUMAN_GENOMES ss3814447636 Jul 13, 2019 (153)
51 EVA ss3832548286 Apr 26, 2020 (154)
52 SGDP_PRJ ss3875909274 Apr 26, 2020 (154)
53 KRGDB ss3924154322 Apr 26, 2020 (154)
54 KOGIC ss3969443392 Apr 26, 2020 (154)
55 TOPMED ss4879410658 Apr 26, 2021 (155)
56 TOMMO_GENOMICS ss5201225451 Apr 26, 2021 (155)
57 1000G_HIGH_COVERAGE ss5286830977 Oct 16, 2022 (156)
58 EVA ss5315537115 Oct 16, 2022 (156)
59 HUGCELL_USP ss5482087979 Oct 16, 2022 (156)
60 EVA ss5510299246 Oct 16, 2022 (156)
61 1000G_HIGH_COVERAGE ss5582175714 Oct 16, 2022 (156)
62 SANFORD_IMAGENETICS ss5650889049 Oct 16, 2022 (156)
63 TOMMO_GENOMICS ss5748130823 Oct 16, 2022 (156)
64 YY_MCH ss5812240463 Oct 16, 2022 (156)
65 EVA ss5836434830 Oct 16, 2022 (156)
66 EVA ss5849917093 Oct 16, 2022 (156)
67 EVA ss5919320782 Oct 16, 2022 (156)
68 EVA ss5942198188 Oct 16, 2022 (156)
69 1000Genomes NC_000011.9 - 27619569 Oct 12, 2018 (152)
70 1000Genomes_30x NC_000011.10 - 27598022 Oct 16, 2022 (156)
71 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 27619569 Oct 12, 2018 (152)
72 Genetic variation in the Estonian population NC_000011.9 - 27619569 Oct 12, 2018 (152)
73 The Danish reference pan genome NC_000011.9 - 27619569 Apr 26, 2020 (154)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 374835987 (NC_000011.10:27598021:G:A 36019/139848)
Row 374835988 (NC_000011.10:27598021:G:T 2/139884)

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

Submission ignored due to conflicting rows:
Row 374835987 (NC_000011.10:27598021:G:A 36019/139848)
Row 374835988 (NC_000011.10:27598021:G:T 2/139884)

- Apr 26, 2021 (155)
76 Genome of the Netherlands Release 5 NC_000011.9 - 27619569 Apr 26, 2020 (154)
77 HapMap NC_000011.10 - 27598022 Apr 26, 2020 (154)
78 KOREAN population from KRGDB NC_000011.9 - 27619569 Apr 26, 2020 (154)
79 Korean Genome Project NC_000011.10 - 27598022 Apr 26, 2020 (154)
80 Northern Sweden NC_000011.9 - 27619569 Jul 13, 2019 (153)
81 Qatari NC_000011.9 - 27619569 Apr 26, 2020 (154)
82 SGDP_PRJ NC_000011.9 - 27619569 Apr 26, 2020 (154)
83 Siberian NC_000011.9 - 27619569 Apr 26, 2020 (154)
84 8.3KJPN NC_000011.9 - 27619569 Apr 26, 2021 (155)
85 14KJPN NC_000011.10 - 27598022 Oct 16, 2022 (156)
86 TopMed NC_000011.10 - 27598022 Apr 26, 2021 (155)
87 UK 10K study - Twins NC_000011.9 - 27619569 Oct 12, 2018 (152)
88 A Vietnamese Genetic Variation Database NC_000011.9 - 27619569 Jul 13, 2019 (153)
89 ALFA NC_000011.10 - 27598022 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
ss114394361, ss119763271, ss169481337, ss202533297, ss207846079, ss280938931, ss286344087, ss482808570, ss1598021937 NC_000011.8:27576144:G:A NC_000011.10:27598021:G:A (self)
53108247, 29502286, 20941351, 2500082, 13161361, 31331716, 11321140, 13749042, 27926254, 7406231, 59194758, 29502286, 6555121, ss225163452, ss235499388, ss242143788, ss484125577, ss536315735, ss562466889, ss657957230, ss780536241, ss782508262, ss836027967, ss988345858, ss1077605719, ss1340607267, ss1426582791, ss1575612285, ss1626249799, ss1669243832, ss1806751751, ss1931707112, ss1967328397, ss2026601277, ss2154889877, ss2627773580, ss2632817928, ss2699167633, ss2897696288, ss3007801137, ss3349517450, ss3626628114, ss3630836251, ss3641727505, ss3675203103, ss3738036275, ss3749096083, ss3832548286, ss3875909274, ss3924154322, ss5201225451, ss5315537115, ss5510299246, ss5650889049, ss5836434830, ss5942198188 NC_000011.9:27619568:G:A NC_000011.10:27598021:G:A (self)
69701649, 578642, 25821393, 81967927, 94956314, 3271797435, ss2181185843, ss3027099243, ss3691459106, ss3814447636, ss3969443392, ss4879410658, ss5286830977, ss5482087979, ss5582175714, ss5748130823, ss5812240463, ss5849917093, ss5919320782 NC_000011.10:27598021:G:A NC_000011.10:27598021:G:A (self)
ss18919371 NT_009237.16:26383508:G:A NC_000011.10:27598021:G:A (self)
ss156097732, ss410788879 NT_009237.18:27559568:G:A NC_000011.10:27598021:G:A (self)
3271797435, ss2181185843 NC_000011.10:27598021:G:T NC_000011.10:27598021:G:T (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 rs12361806

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