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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.

rs1346151

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:26711852 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.335305 (88752/264690, TOPMED)
T=0.328552 (45948/139850, GnomAD)
T=0.37054 (11437/30866, ALFA) (+ 12 more)
T=0.3109 (1557/5008, 1000G)
T=0.3801 (1703/4480, Estonian)
T=0.3931 (1515/3854, ALSPAC)
T=0.4008 (1486/3708, TWINSUK)
T=0.2235 (655/2930, KOREAN)
T=0.2287 (419/1832, Korea1K)
T=0.354 (353/998, GoNL)
T=0.468 (281/600, NorthernSweden)
C=0.350 (119/340, SGDP_PRJ)
T=0.435 (94/216, Qatari)
T=0.45 (18/40, GENOME_DK)
C=0.36 (8/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GABRB3 : 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 30866 C=0.62946 T=0.37054
European Sub 24736 C=0.60774 T=0.39226
African Sub 3168 C=0.7771 T=0.2229
African Others Sub 124 C=0.742 T=0.258
African American Sub 3044 C=0.7786 T=0.2214
Asian Sub 128 C=0.805 T=0.195
East Asian Sub 100 C=0.79 T=0.21
Other Asian Sub 28 C=0.86 T=0.14
Latin American 1 Sub 168 C=0.631 T=0.369
Latin American 2 Sub 700 C=0.637 T=0.363
South Asian Sub 114 C=0.658 T=0.342
Other Sub 1852 C=0.6501 T=0.3499


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 C=0.664695 T=0.335305
gnomAD - Genomes Global Study-wide 139850 C=0.671448 T=0.328552
gnomAD - Genomes European Sub 75720 C=0.61603 T=0.38397
gnomAD - Genomes African Sub 41926 C=0.78853 T=0.21147
gnomAD - Genomes American Sub 13614 C=0.59431 T=0.40569
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.6844 T=0.3156
gnomAD - Genomes East Asian Sub 3116 C=0.7847 T=0.2153
gnomAD - Genomes Other Sub 2150 C=0.6442 T=0.3558
Allele Frequency Aggregator Total Global 30866 C=0.62946 T=0.37054
Allele Frequency Aggregator European Sub 24736 C=0.60774 T=0.39226
Allele Frequency Aggregator African Sub 3168 C=0.7771 T=0.2229
Allele Frequency Aggregator Other Sub 1852 C=0.6501 T=0.3499
Allele Frequency Aggregator Latin American 2 Sub 700 C=0.637 T=0.363
Allele Frequency Aggregator Latin American 1 Sub 168 C=0.631 T=0.369
Allele Frequency Aggregator Asian Sub 128 C=0.805 T=0.195
Allele Frequency Aggregator South Asian Sub 114 C=0.658 T=0.342
1000Genomes Global Study-wide 5008 C=0.6891 T=0.3109
1000Genomes African Sub 1322 C=0.7980 T=0.2020
1000Genomes East Asian Sub 1008 C=0.7996 T=0.2004
1000Genomes Europe Sub 1006 C=0.6044 T=0.3956
1000Genomes South Asian Sub 978 C=0.566 T=0.434
1000Genomes American Sub 694 C=0.617 T=0.383
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.6199 T=0.3801
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6069 T=0.3931
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5992 T=0.4008
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7765 T=0.2235
Korean Genome Project KOREAN Study-wide 1832 C=0.7713 T=0.2287
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.646 T=0.354
Northern Sweden ACPOP Study-wide 600 C=0.532 T=0.468
SGDP_PRJ Global Study-wide 340 C=0.350 T=0.650
Qatari Global Study-wide 216 C=0.565 T=0.435
The Danish reference pan genome Danish Study-wide 40 C=0.55 T=0.45
Siberian Global Study-wide 22 C=0.36 T=0.64
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 15 NC_000015.10:g.26711852C>G
GRCh38.p14 chr 15 NC_000015.10:g.26711852C>T
GRCh37.p13 chr 15 NC_000015.9:g.26956999C>G
GRCh37.p13 chr 15 NC_000015.9:g.26956999C>T
GABRB3 RefSeqGene NG_012836.1:g.66929G>C
GABRB3 RefSeqGene NG_012836.1:g.66929G>A
Gene: GABRB3, gamma-aminobutyric acid type A receptor subunit beta3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GABRB3 transcript variant 1 NM_000814.6:c.240+60550G>C N/A Intron Variant
GABRB3 transcript variant 3 NM_001191320.2:c.-16+4762…

NM_001191320.2:c.-16+4762G>C

N/A Intron Variant
GABRB3 transcript variant 5 NM_001278631.2:c.-112+605…

NM_001278631.2:c.-112+60550G>C

N/A Intron Variant
GABRB3 transcript variant 2 NM_021912.5:c.240+60550G>C N/A Intron Variant
GABRB3 transcript variant 4 NM_001191321.3:c. N/A Genic Upstream Transcript Variant
GABRB3 transcript variant 6 NR_103801.2:n. N/A Genic Upstream Transcript Variant
GABRB3 transcript variant X1 XM_011521428.4:c. N/A Genic Upstream 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 C= G T
GRCh38.p14 chr 15 NC_000015.10:g.26711852= NC_000015.10:g.26711852C>G NC_000015.10:g.26711852C>T
GRCh37.p13 chr 15 NC_000015.9:g.26956999= NC_000015.9:g.26956999C>G NC_000015.9:g.26956999C>T
GABRB3 RefSeqGene NG_012836.1:g.66929= NG_012836.1:g.66929G>C NG_012836.1:g.66929G>A
GABRB3 transcript variant 1 NM_000814.5:c.240+60550= NM_000814.5:c.240+60550G>C NM_000814.5:c.240+60550G>A
GABRB3 transcript variant 1 NM_000814.6:c.240+60550= NM_000814.6:c.240+60550G>C NM_000814.6:c.240+60550G>A
GABRB3 transcript variant 3 NM_001191320.1:c.-16+4762= NM_001191320.1:c.-16+4762G>C NM_001191320.1:c.-16+4762G>A
GABRB3 transcript variant 3 NM_001191320.2:c.-16+4762= NM_001191320.2:c.-16+4762G>C NM_001191320.2:c.-16+4762G>A
GABRB3 transcript variant 5 NM_001278631.1:c.-112+60550= NM_001278631.1:c.-112+60550G>C NM_001278631.1:c.-112+60550G>A
GABRB3 transcript variant 5 NM_001278631.2:c.-112+60550= NM_001278631.2:c.-112+60550G>C NM_001278631.2:c.-112+60550G>A
GABRB3 transcript variant 2 NM_021912.4:c.240+60550= NM_021912.4:c.240+60550G>C NM_021912.4:c.240+60550G>A
GABRB3 transcript variant 2 NM_021912.5:c.240+60550= NM_021912.5:c.240+60550G>C NM_021912.5:c.240+60550G>A
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#.

75 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2123655 Oct 23, 2000 (88)
2 SC_JCM ss6238770 Feb 20, 2003 (111)
3 SSAHASNP ss21236908 Apr 05, 2004 (121)
4 ABI ss40588348 Mar 13, 2006 (126)
5 HGSV ss82030825 Dec 15, 2007 (130)
6 BCMHGSC_JDW ss90100545 Mar 24, 2008 (129)
7 BGI ss103223434 Dec 01, 2009 (131)
8 ENSEMBL ss132382037 Dec 01, 2009 (131)
9 ENSEMBL ss134205392 Dec 01, 2009 (131)
10 GMI ss156345913 Dec 01, 2009 (131)
11 1000GENOMES ss211583712 Jul 14, 2010 (132)
12 1000GENOMES ss226807129 Jul 14, 2010 (132)
13 1000GENOMES ss236718649 Jul 15, 2010 (132)
14 1000GENOMES ss243117300 Jul 15, 2010 (132)
15 BL ss254854492 May 09, 2011 (134)
16 GMI ss282188739 May 04, 2012 (137)
17 ILLUMINA ss483095480 May 04, 2012 (137)
18 ILLUMINA ss483374558 May 04, 2012 (137)
19 ILLUMINA ss535268263 Sep 08, 2015 (146)
20 SSMP ss660088760 Apr 25, 2013 (138)
21 ILLUMINA ss780149247 Sep 08, 2015 (146)
22 ILLUMINA ss781991106 Sep 08, 2015 (146)
23 ILLUMINA ss835632803 Sep 08, 2015 (146)
24 EVA-GONL ss991614172 Aug 21, 2014 (142)
25 JMKIDD_LAB ss1079994484 Aug 21, 2014 (142)
26 1000GENOMES ss1352780844 Aug 21, 2014 (142)
27 DDI ss1427572679 Apr 01, 2015 (144)
28 EVA_GENOME_DK ss1577516996 Apr 01, 2015 (144)
29 EVA_UK10K_ALSPAC ss1632650306 Apr 01, 2015 (144)
30 EVA_UK10K_TWINSUK ss1675644339 Apr 01, 2015 (144)
31 EVA_DECODE ss1695625278 Apr 01, 2015 (144)
32 WEILL_CORNELL_DGM ss1935010600 Feb 12, 2016 (147)
33 GENOMED ss1968067858 Jul 19, 2016 (147)
34 JJLAB ss2028285541 Sep 14, 2016 (149)
35 USC_VALOUEV ss2156682028 Dec 20, 2016 (150)
36 HUMAN_LONGEVITY ss2205446840 Dec 20, 2016 (150)
37 ILLUMINA ss2633207286 Nov 08, 2017 (151)
38 GRF ss2701140523 Nov 08, 2017 (151)
39 AFFY ss2985665361 Nov 08, 2017 (151)
40 SWEGEN ss3012991062 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3027966672 Nov 08, 2017 (151)
42 CSHL ss3351037264 Nov 08, 2017 (151)
43 ILLUMINA ss3627320962 Oct 12, 2018 (152)
44 ILLUMINA ss3631201685 Oct 12, 2018 (152)
45 ILLUMINA ss3641903932 Oct 12, 2018 (152)
46 URBANLAB ss3650314679 Oct 12, 2018 (152)
47 EGCUT_WGS ss3680161352 Jul 13, 2019 (153)
48 EVA_DECODE ss3697565159 Jul 13, 2019 (153)
49 ACPOP ss3740778544 Jul 13, 2019 (153)
50 EVA ss3752878522 Jul 13, 2019 (153)
51 PACBIO ss3787798235 Jul 13, 2019 (153)
52 PACBIO ss3792817861 Jul 13, 2019 (153)
53 PACBIO ss3797702316 Jul 13, 2019 (153)
54 KHV_HUMAN_GENOMES ss3818195908 Jul 13, 2019 (153)
55 EVA ss3834151222 Apr 27, 2020 (154)
56 EVA ss3840672251 Apr 27, 2020 (154)
57 EVA ss3846160958 Apr 27, 2020 (154)
58 SGDP_PRJ ss3882530502 Apr 27, 2020 (154)
59 KRGDB ss3931654073 Apr 27, 2020 (154)
60 KOGIC ss3975836034 Apr 27, 2020 (154)
61 GNOMAD ss4285758832 Apr 26, 2021 (155)
62 TOPMED ss4985384764 Apr 26, 2021 (155)
63 TOMMO_GENOMICS ss5215360937 Apr 26, 2021 (155)
64 TOMMO_GENOMICS ss5215360938 Apr 26, 2021 (155)
65 1000G_HIGH_COVERAGE ss5297825025 Oct 16, 2022 (156)
66 EVA ss5315770912 Oct 16, 2022 (156)
67 EVA ss5418129768 Oct 16, 2022 (156)
68 HUGCELL_USP ss5491643840 Oct 16, 2022 (156)
69 TOMMO_GENOMICS ss5768923830 Oct 16, 2022 (156)
70 TOMMO_GENOMICS ss5768923831 Oct 16, 2022 (156)
71 YY_MCH ss5815179477 Oct 16, 2022 (156)
72 EVA ss5827969642 Oct 16, 2022 (156)
73 EVA ss5851222899 Oct 16, 2022 (156)
74 EVA ss5875208791 Oct 16, 2022 (156)
75 EVA ss5948564845 Oct 16, 2022 (156)
76 1000Genomes NC_000015.9 - 26956999 Oct 12, 2018 (152)
77 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 26956999 Oct 12, 2018 (152)
78 Genetic variation in the Estonian population NC_000015.9 - 26956999 Oct 12, 2018 (152)
79 The Danish reference pan genome NC_000015.9 - 26956999 Apr 27, 2020 (154)
80 gnomAD - Genomes NC_000015.10 - 26711852 Apr 26, 2021 (155)
81 Genome of the Netherlands Release 5 NC_000015.9 - 26956999 Apr 27, 2020 (154)
82 KOREAN population from KRGDB NC_000015.9 - 26956999 Apr 27, 2020 (154)
83 Korean Genome Project NC_000015.10 - 26711852 Apr 27, 2020 (154)
84 Northern Sweden NC_000015.9 - 26956999 Jul 13, 2019 (153)
85 Qatari NC_000015.9 - 26956999 Apr 27, 2020 (154)
86 SGDP_PRJ NC_000015.9 - 26956999 Apr 27, 2020 (154)
87 Siberian NC_000015.9 - 26956999 Apr 27, 2020 (154)
88 8.3KJPN

Submission ignored due to conflicting rows:
Row 73330244 (NC_000015.9:26956998:C:T 4913/16760)
Row 73330245 (NC_000015.9:26956998:C:G 1/16760)

- Apr 26, 2021 (155)
89 8.3KJPN

Submission ignored due to conflicting rows:
Row 73330244 (NC_000015.9:26956998:C:T 4913/16760)
Row 73330245 (NC_000015.9:26956998:C:G 1/16760)

- Apr 26, 2021 (155)
90 14KJPN

Submission ignored due to conflicting rows:
Row 102760934 (NC_000015.10:26711851:C:T 8248/28258)
Row 102760935 (NC_000015.10:26711851:C:G 1/28258)

- Oct 16, 2022 (156)
91 14KJPN

Submission ignored due to conflicting rows:
Row 102760934 (NC_000015.10:26711851:C:T 8248/28258)
Row 102760935 (NC_000015.10:26711851:C:G 1/28258)

- Oct 16, 2022 (156)
92 TopMed NC_000015.10 - 26711852 Apr 26, 2021 (155)
93 UK 10K study - Twins NC_000015.9 - 26956999 Oct 12, 2018 (152)
94 ALFA NC_000015.10 - 26711852 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)
rs58413948 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5215360938 NC_000015.9:26956998:C:G NC_000015.10:26711851:C:G (self)
ss5768923831 NC_000015.10:26711851:C:G NC_000015.10:26711851:C:G
ss82030825, ss90100545, ss211583712, ss254854492, ss282188739, ss483374558, ss1695625278 NC_000015.8:24508091:C:T NC_000015.10:26711851:C:T (self)
65826350, 36552076, 25899600, 3788293, 16328326, 38831467, 14063409, 17052530, 34547482, 9198382, 36552076, ss226807129, ss236718649, ss243117300, ss483095480, ss535268263, ss660088760, ss780149247, ss781991106, ss835632803, ss991614172, ss1079994484, ss1352780844, ss1427572679, ss1577516996, ss1632650306, ss1675644339, ss1935010600, ss1968067858, ss2028285541, ss2156682028, ss2633207286, ss2701140523, ss2985665361, ss3012991062, ss3351037264, ss3627320962, ss3631201685, ss3641903932, ss3680161352, ss3740778544, ss3752878522, ss3787798235, ss3792817861, ss3797702316, ss3834151222, ss3840672251, ss3882530502, ss3931654073, ss5215360937, ss5315770912, ss5418129768, ss5827969642, ss5948564845 NC_000015.9:26956998:C:T NC_000015.10:26711851:C:T (self)
463997430, 32214035, 200930424, 2384961508, ss2205446840, ss3027966672, ss3650314679, ss3697565159, ss3818195908, ss3846160958, ss3975836034, ss4285758832, ss4985384764, ss5297825025, ss5491643840, ss5768923830, ss5815179477, ss5851222899, ss5875208791 NC_000015.10:26711851:C:T NC_000015.10:26711851:C:T (self)
ss21236908 NT_026446.12:3391797:C:T NC_000015.10:26711851:C:T (self)
ss2123655, ss6238770, ss40588348, ss103223434, ss132382037, ss134205392, ss156345913 NT_026446.14:3392145:C:T NC_000015.10:26711851:C: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 rs1346151

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