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dbSNP Short Genetic Variations

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.

rs1049353

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr6:88143916 (GRCh38.p12) 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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.21412 (53830/251402, GnomAD_exome)
T=0.18361 (23055/125568, TOPMED)
T=0.21357 (25926/121396, ExAC) (+ 9 more)
T=0.1078 (8478/78648, PAGE_STUDY)
T=0.2032 (6363/31312, GnomAD)
T=0.2033 (2644/13006, GO-ESP)
T=0.129 (648/5008, 1000G)
T=0.262 (1172/4480, Estonian)
T=0.299 (1152/3854, ALSPAC)
T=0.295 (1094/3708, TWINSUK)
T=0.09 (55/610, Vietnamese)
T=0.26 (154/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CNR1 : Synonymous Variant
Publications
96 citations
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.p12 chr 6 NC_000006.12:g.88143916C>T
GRCh37.p13 chr 6 NC_000006.11:g.88853635C>T
Gene: CNR1, cannabinoid receptor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CNR1 transcript variant 2 NM_033181.4:c.1260G>A T [ACG] > T [ACA] Coding Sequence Variant
cannabinoid receptor 1 isoform b NP_149421.2:p.Thr420= T (Thr) > T (Thr) Synonymous Variant
CNR1 transcript variant 1 NM_016083.6:c.1359G>A T [ACG] > T [ACA] Coding Sequence Variant
cannabinoid receptor 1 isoform a NP_057167.2:p.Thr453= T (Thr) > T (Thr) Synonymous Variant
CNR1 transcript variant 3 NM_001160226.3:c.1359G>A T [ACG] > T [ACA] Coding Sequence Variant
cannabinoid receptor 1 isoform a NP_001153698.1:p.Thr453= T (Thr) > T (Thr) Synonymous Variant
CNR1 transcript variant 4 NM_001160258.3:c.1359G>A T [ACG] > T [ACA] Coding Sequence Variant
cannabinoid receptor 1 isoform a NP_001153730.1:p.Thr453= T (Thr) > T (Thr) Synonymous Variant
CNR1 transcript variant 5 NM_001160259.3:c.1359G>A T [ACG] > T [ACA] Coding Sequence Variant
cannabinoid receptor 1 isoform a NP_001153731.1:p.Thr453= T (Thr) > T (Thr) Synonymous Variant
CNR1 transcript variant 6 NM_001365869.2:c.1359G>A T [ACG] > T [ACA] Coding Sequence Variant
cannabinoid receptor 1 isoform a NP_001352798.1:p.Thr453= T (Thr) > T (Thr) Synonymous Variant
CNR1 transcript variant 7 NM_001365870.2:c.1359G>A T [ACG] > T [ACA] Coding Sequence Variant
cannabinoid receptor 1 isoform a NP_001352799.1:p.Thr453= T (Thr) > T (Thr) Synonymous Variant
CNR1 transcript variant 8 NM_001365872.2:c.1359G>A T [ACG] > T [ACA] Coding Sequence Variant
cannabinoid receptor 1 isoform a NP_001352801.1:p.Thr453= T (Thr) > T (Thr) Synonymous Variant
CNR1 transcript variant 9 NM_001365874.2:c.1359G>A T [ACG] > T [ACA] Coding Sequence Variant
cannabinoid receptor 1 isoform a NP_001352803.1:p.Thr453= T (Thr) > T (Thr) Synonymous Variant
CNR1 transcript variant 10 NM_001370545.1:c. N/A Coding Sequence Variant
CNR1 transcript variant 11 NM_001370546.1:c. N/A Coding Sequence Variant
CNR1 transcript variant 12 NM_001370547.1:c. N/A Coding Sequence Variant
CNR1 transcript variant X1 XM_011535425.2:c.1359G>A T [ACG] > T [ACA] Coding Sequence Variant
cannabinoid receptor 1 isoform X1 XP_011533727.1:p.Thr453= T (Thr) > T (Thr) Synonymous 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

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
gnomAD - Exomes Global Study-wide 251402 C=0.78588 T=0.21412
gnomAD - Exomes European Sub 135344 C=0.72023 T=0.27977
gnomAD - Exomes Asian Sub 48998 C=0.8616 T=0.1384
gnomAD - Exomes American Sub 34592 C=0.8585 T=0.1415
gnomAD - Exomes African Sub 16256 C=0.9427 T=0.0573
gnomAD - Exomes Ashkenazi Jewish Sub 10076 C=0.7972 T=0.2028
gnomAD - Exomes Other Sub 6136 C=0.786 T=0.214
TopMed Global Study-wide 125568 C=0.81639 T=0.18361
ExAC Global Study-wide 121396 C=0.78643 T=0.21357
ExAC Europe Sub 73340 C=0.7271 T=0.2729
ExAC Asian Sub 25164 C=0.8594 T=0.1406
ExAC American Sub 11578 C=0.8669 T=0.1331
ExAC African Sub 10406 C=0.9387 T=0.0613
ExAC Other Sub 908 C=0.79 T=0.21
The PAGE Study Global Study-wide 78648 C=0.8922 T=0.1078
The PAGE Study AfricanAmerican Sub 32500 C=0.9308 T=0.0692
The PAGE Study Mexican Sub 10802 C=0.8464 T=0.1536
The PAGE Study Asian Sub 8318 C=0.938 T=0.062
The PAGE Study PuertoRican Sub 7910 C=0.847 T=0.153
The PAGE Study NativeHawaiian Sub 4534 C=0.910 T=0.090
The PAGE Study Cuban Sub 4220 C=0.795 T=0.205
The PAGE Study Dominican Sub 3820 C=0.860 T=0.140
The PAGE Study CentralAmerican Sub 2450 C=0.873 T=0.127
The PAGE Study SouthAmerican Sub 1978 C=0.851 T=0.149
The PAGE Study NativeAmerican Sub 1260 C=0.765 T=0.235
The PAGE Study SouthAsian Sub 856 C=0.84 T=0.16
gnomAD - Genomes Global Study-wide 31312 C=0.7968 T=0.2032
gnomAD - Genomes European Sub 18840 C=0.7199 T=0.2801
gnomAD - Genomes African Sub 8696 C=0.938 T=0.062
gnomAD - Genomes East Asian Sub 1556 C=0.936 T=0.064
gnomAD - Genomes Other Sub 1084 C=0.751 T=0.249
gnomAD - Genomes American Sub 846 C=0.85 T=0.15
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.81 T=0.19
GO Exome Sequencing Project Global Study-wide 13006 C=0.7967 T=0.2033
GO Exome Sequencing Project European American Sub 8600 C=0.729 T=0.271
GO Exome Sequencing Project African American Sub 4406 C=0.929 T=0.071
1000Genomes Global Study-wide 5008 C=0.871 T=0.129
1000Genomes African Sub 1322 C=0.971 T=0.029
1000Genomes East Asian Sub 1008 C=0.924 T=0.076
1000Genomes Europe Sub 1006 C=0.742 T=0.258
1000Genomes South Asian Sub 978 C=0.83 T=0.17
1000Genomes American Sub 694 C=0.85 T=0.15
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.738 T=0.262
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.701 T=0.299
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.705 T=0.295
A Vietnamese Genetic Variation Database Global Study-wide 610 C=0.91 T=0.09
Northern Sweden ACPOP Study-wide 600 C=0.74 T=0.26
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= T Note
GRCh38.p12 chr 6 NC_000006.12:g.88143916= NC_000006.12:g.88143916C>T
GRCh37.p13 chr 6 NC_000006.11:g.88853635= NC_000006.11:g.88853635C>T
CNR1 transcript variant 1 NM_016083.5:c.1359= NM_016083.5:c.1359G>A
CNR1 transcript variant 1 NM_016083.6:c.1359= NM_016083.6:c.1359G>A
CNR1 transcript variant 1 NM_016083.4:c.1359= NM_016083.4:c.1359G>A
CNR1 transcript variant 2 NM_033181.4:c.1260= NM_033181.4:c.1260G>A
CNR1 transcript variant 2 NM_033181.3:c.1260= NM_033181.3:c.1260G>A
CNR1 transcript variant 4 NM_001160258.2:c.1359= NM_001160258.2:c.1359G>A
CNR1 transcript variant 4 NM_001160258.3:c.1359= NM_001160258.3:c.1359G>A
CNR1 transcript variant 4 NM_001160258.1:c.1359= NM_001160258.1:c.1359G>A
CNR1 transcript variant 3 NM_001160226.2:c.1359= NM_001160226.2:c.1359G>A
CNR1 transcript variant 3 NM_001160226.3:c.1359= NM_001160226.3:c.1359G>A
CNR1 transcript variant 3 NM_001160226.1:c.1359= NM_001160226.1:c.1359G>A
CNR1 transcript variant X1 XM_011535425.2:c.1359= XM_011535425.2:c.1359G>A
CNR1 transcript variant 5 NM_001160259.2:c.1359= NM_001160259.2:c.1359G>A
CNR1 transcript variant 5 NM_001160259.3:c.1359= NM_001160259.3:c.1359G>A
CNR1 transcript variant 5 NM_001160259.1:c.1359= NM_001160259.1:c.1359G>A
CNR1 transcript variant 8 NM_001365872.1:c.1359= NM_001365872.1:c.1359G>A
CNR1 transcript variant 8 NM_001365872.2:c.1359= NM_001365872.2:c.1359G>A
CNR1 transcript variant 7 NM_001365870.1:c.1359= NM_001365870.1:c.1359G>A
CNR1 transcript variant 7 NM_001365870.2:c.1359= NM_001365870.2:c.1359G>A
CNR1 transcript variant 6 NM_001365869.1:c.1359= NM_001365869.1:c.1359G>A
CNR1 transcript variant 6 NM_001365869.2:c.1359= NM_001365869.2:c.1359G>A
CNR1 transcript variant 9 NM_001365874.1:c.1359= NM_001365874.1:c.1359G>A
CNR1 transcript variant 9 NM_001365874.2:c.1359= NM_001365874.2:c.1359G>A
cannabinoid receptor 1 isoform a NP_057167.2:p.Thr453= NP_057167.2:p.Thr453=
cannabinoid receptor 1 isoform b NP_149421.2:p.Thr420= NP_149421.2:p.Thr420=
cannabinoid receptor 1 isoform a NP_001153730.1:p.Thr453= NP_001153730.1:p.Thr453=
cannabinoid receptor 1 isoform a NP_001153698.1:p.Thr453= NP_001153698.1:p.Thr453=
cannabinoid receptor 1 isoform X1 XP_011533727.1:p.Thr453= XP_011533727.1:p.Thr453=
cannabinoid receptor 1 isoform a NP_001153731.1:p.Thr453= NP_001153731.1:p.Thr453=
cannabinoid receptor 1 isoform a NP_001352801.1:p.Thr453= NP_001352801.1:p.Thr453=
cannabinoid receptor 1 isoform a NP_001352799.1:p.Thr453= NP_001352799.1:p.Thr453=
cannabinoid receptor 1 isoform a NP_001352798.1:p.Thr453= NP_001352798.1:p.Thr453=
cannabinoid receptor 1 isoform a NP_001352803.1:p.Thr453= NP_001352803.1:p.Thr453=
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#.

107 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1523040 Oct 05, 2000 (86)
2 LEE ss4394146 May 29, 2002 (106)
3 LEE ss4414250 May 29, 2002 (106)
4 CSHL-HAPMAP ss17131668 Feb 27, 2004 (120)
5 PERLEGEN ss24419243 Sep 20, 2004 (123)
6 SEQUENOM ss24816524 Sep 20, 2004 (123)
7 ABI ss44776432 Mar 14, 2006 (126)
8 ILLUMINA ss66730090 Dec 01, 2006 (127)
9 ILLUMINA ss66887759 Dec 01, 2006 (127)
10 ILLUMINA ss66987652 Dec 01, 2006 (127)
11 PERLEGEN ss68983136 May 18, 2007 (127)
12 ILLUMINA ss70369255 May 18, 2007 (127)
13 ILLUMINA ss70483612 May 23, 2008 (130)
14 ILLUMINA ss71007602 May 18, 2007 (127)
15 SI_EXO ss71649057 May 18, 2007 (127)
16 ILLUMINA ss75708142 Dec 06, 2007 (129)
17 AFFY ss76431984 Dec 06, 2007 (129)
18 CGM_KYOTO ss76872449 Dec 06, 2007 (129)
19 KRIBB_YJKIM ss83673782 Dec 14, 2007 (130)
20 CORNELL ss86240653 Mar 23, 2008 (129)
21 1000GENOMES ss110497427 Jan 24, 2009 (130)
22 ILLUMINA ss121326446 Dec 01, 2009 (131)
23 ILLUMINA ss152750963 Dec 01, 2009 (131)
24 ILLUMINA ss159128510 Dec 01, 2009 (131)
25 SEATTLESEQ ss159713121 Dec 01, 2009 (131)
26 ILLUMINA ss159901252 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss162589241 Jul 04, 2010 (132)
28 ILLUMINA ss169444286 Jul 04, 2010 (132)
29 ILLUMINA ss170194014 Jul 04, 2010 (132)
30 1000GENOMES ss233575502 Jul 15, 2010 (132)
31 1000GENOMES ss240611299 Jul 15, 2010 (132)
32 NHLBI-ESP ss342218051 May 09, 2011 (134)
33 ILLUMINA ss479288935 May 04, 2012 (137)
34 ILLUMINA ss479292002 May 04, 2012 (137)
35 ILLUMINA ss479670967 Sep 08, 2015 (146)
36 ILLUMINA ss484444954 May 04, 2012 (137)
37 1000GENOMES ss490930543 May 04, 2012 (137)
38 CLINSEQ_SNP ss491893580 May 04, 2012 (137)
39 ILLUMINA ss536612934 Sep 08, 2015 (146)
40 SSMP ss653346943 Apr 25, 2013 (138)
41 ILLUMINA ss778733715 Aug 21, 2014 (142)
42 ILLUMINA ss782668984 Aug 21, 2014 (142)
43 ILLUMINA ss783637726 Aug 21, 2014 (142)
44 ILLUMINA ss825338866 Apr 01, 2015 (144)
45 ILLUMINA ss831919620 Apr 01, 2015 (144)
46 ILLUMINA ss832641202 Aug 21, 2014 (142)
47 ILLUMINA ss833231891 Aug 21, 2014 (142)
48 ILLUMINA ss834193232 Aug 21, 2014 (142)
49 JMKIDD_LAB ss974461307 Aug 21, 2014 (142)
50 EVA-GONL ss983206963 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1067481333 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1073813452 Aug 21, 2014 (142)
53 1000GENOMES ss1321167038 Aug 21, 2014 (142)
54 DDI ss1430813218 Apr 01, 2015 (144)
55 EVA_GENOME_DK ss1581782377 Apr 01, 2015 (144)
56 EVA_FINRISK ss1584048046 Apr 01, 2015 (144)
57 EVA_DECODE ss1592758887 Apr 01, 2015 (144)
58 EVA_UK10K_ALSPAC ss1616103530 Apr 01, 2015 (144)
59 EVA_UK10K_TWINSUK ss1659097563 Apr 01, 2015 (144)
60 EVA_EXAC ss1688421475 Apr 01, 2015 (144)
61 EVA_MGP ss1711137531 Apr 01, 2015 (144)
62 EVA_SVP ss1712879979 Apr 01, 2015 (144)
63 ILLUMINA ss1752651335 Sep 08, 2015 (146)
64 WEILL_CORNELL_DGM ss1926464691 Feb 12, 2016 (147)
65 ILLUMINA ss1958930909 Feb 12, 2016 (147)
66 GENOMED ss1970460351 Jul 19, 2016 (147)
67 JJLAB ss2023875370 Sep 14, 2016 (149)
68 USC_VALOUEV ss2152067482 Dec 20, 2016 (150)
69 HUMAN_LONGEVITY ss2286015765 Dec 20, 2016 (150)
70 TOPMED ss2454655805 Dec 20, 2016 (150)
71 ILLUMINA ss2634479291 Nov 08, 2017 (151)
72 GRF ss2707686334 Nov 08, 2017 (151)
73 GNOMAD ss2735945764 Nov 08, 2017 (151)
74 GNOMAD ss2747669484 Nov 08, 2017 (151)
75 GNOMAD ss2841922001 Nov 08, 2017 (151)
76 AFFY ss2985374703 Nov 08, 2017 (151)
77 AFFY ss2986005520 Nov 08, 2017 (151)
78 SWEGEN ss2999504312 Nov 08, 2017 (151)
79 ILLUMINA ss3022643752 Nov 08, 2017 (151)
80 BIOINF_KMB_FNS_UNIBA ss3025731625 Nov 08, 2017 (151)
81 CSHL ss3347101341 Nov 08, 2017 (151)
82 TOPMED ss3504453191 Nov 08, 2017 (151)
83 ILLUMINA ss3629597288 Oct 12, 2018 (152)
84 ILLUMINA ss3632394263 Oct 12, 2018 (152)
85 ILLUMINA ss3633429038 Oct 12, 2018 (152)
86 ILLUMINA ss3634152262 Oct 12, 2018 (152)
87 ILLUMINA ss3635077264 Oct 12, 2018 (152)
88 ILLUMINA ss3635832924 Oct 12, 2018 (152)
89 ILLUMINA ss3636801155 Oct 12, 2018 (152)
90 ILLUMINA ss3637585756 Oct 12, 2018 (152)
91 ILLUMINA ss3638642743 Oct 12, 2018 (152)
92 ILLUMINA ss3639321900 Oct 12, 2018 (152)
93 ILLUMINA ss3639687281 Oct 12, 2018 (152)
94 ILLUMINA ss3640784565 Oct 12, 2018 (152)
95 ILLUMINA ss3643582902 Oct 12, 2018 (152)
96 OMUKHERJEE_ADBS ss3646341748 Oct 12, 2018 (152)
97 ILLUMINA ss3653161489 Oct 12, 2018 (152)
98 ILLUMINA ss3654140856 Oct 12, 2018 (152)
99 EGCUT_WGS ss3667384881 Jul 13, 2019 (153)
100 EVA_DECODE ss3717723590 Jul 13, 2019 (153)
101 ILLUMINA ss3726363576 Jul 13, 2019 (153)
102 ACPOP ss3733738154 Jul 13, 2019 (153)
103 ILLUMINA ss3745377207 Jul 13, 2019 (153)
104 EVA ss3765331929 Jul 13, 2019 (153)
105 PAGE_CC ss3771307031 Jul 13, 2019 (153)
106 ILLUMINA ss3772870682 Jul 13, 2019 (153)
107 KHV_HUMAN_GENOMES ss3808482653 Jul 13, 2019 (153)
108 1000Genomes NC_000006.11 - 88853635 Oct 12, 2018 (152)
109 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 88853635 Oct 12, 2018 (152)
110 Genetic variation in the Estonian population NC_000006.11 - 88853635 Oct 12, 2018 (152)
111 ExAC NC_000006.11 - 88853635 Oct 12, 2018 (152)
112 gnomAD - Genomes NC_000006.11 - 88853635 Jul 13, 2019 (153)
113 gnomAD - Exomes NC_000006.11 - 88853635 Jul 13, 2019 (153)
114 GO Exome Sequencing Project NC_000006.11 - 88853635 Oct 12, 2018 (152)
115 Northern Sweden NC_000006.11 - 88853635 Jul 13, 2019 (153)
116 The PAGE Study NC_000006.12 - 88143916 Jul 13, 2019 (153)
117 TopMed NC_000006.12 - 88143916 Oct 12, 2018 (152)
118 UK 10K study - Twins NC_000006.11 - 88853635 Oct 12, 2018 (152)
119 A Vietnamese Genetic Variation Database NC_000006.11 - 88853635 Jul 13, 2019 (153)
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)
rs3173203 Jul 03, 2002 (106)
rs17264339 Oct 07, 2004 (123)
rs56973242 May 23, 2008 (130)
rs386513644 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639321900, ss3639687281 NC_000006.9:88910353:C:T NC_000006.12:88143915:C:T (self)
ss110497427, ss162589241, ss479288935, ss491893580, ss825338866, ss1592758887, ss1712879979, ss3643582902 NC_000006.10:88910353:C:T NC_000006.12:88143915:C:T (self)
32993401, 18375394, 13123129, 8461799, 90141857, 5093281, 667339, 7023019, 18375394, 4084751, ss233575502, ss240611299, ss342218051, ss479292002, ss479670967, ss484444954, ss490930543, ss536612934, ss653346943, ss778733715, ss782668984, ss783637726, ss831919620, ss832641202, ss833231891, ss834193232, ss974461307, ss983206963, ss1067481333, ss1073813452, ss1321167038, ss1430813218, ss1581782377, ss1584048046, ss1616103530, ss1659097563, ss1688421475, ss1711137531, ss1752651335, ss1926464691, ss1958930909, ss1970460351, ss2023875370, ss2152067482, ss2454655805, ss2634479291, ss2707686334, ss2735945764, ss2747669484, ss2841922001, ss2985374703, ss2986005520, ss2999504312, ss3022643752, ss3347101341, ss3629597288, ss3632394263, ss3633429038, ss3634152262, ss3635077264, ss3635832924, ss3636801155, ss3637585756, ss3638642743, ss3640784565, ss3646341748, ss3653161489, ss3654140856, ss3667384881, ss3733738154, ss3745377207, ss3765331929, ss3772870682 NC_000006.11:88853634:C:T NC_000006.12:88143915:C:T (self)
528500, 343595515, ss2286015765, ss3025731625, ss3504453191, ss3717723590, ss3726363576, ss3771307031, ss3808482653 NC_000006.12:88143915:C:T NC_000006.12:88143915:C:T (self)
ss17131668 NT_007299.12:26673805:C:T NC_000006.12:88143915:C:T (self)
ss1523040, ss4394146, ss4414250, ss24419243, ss24816524, ss44776432, ss66730090, ss66887759, ss66987652, ss68983136, ss70369255, ss70483612, ss71007602, ss71649057, ss75708142, ss76431984, ss76872449, ss83673782, ss86240653, ss121326446, ss152750963, ss159128510, ss159713121, ss159901252, ss169444286, ss170194014 NT_007299.13:26973468:C:T NC_000006.12:88143915: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.

96 citations for rs1049353
PMID Title Author Year Journal
16917946 Cannabis receptor haplotype associated with fewer cannabis dependence symptoms in adolescents. Hopfer CJ et al. 2006 American journal of medical genetics. Part B, Neuropsychiatric genetics
17292652 No evidence for an involvement of variants in the cannabinoid receptor gene (CNR1) in obesity in German children and adolescents. Müller TD et al. 2007 Molecular genetics and metabolism
17873324 The G1422A variant of the cannabinoid receptor gene (CNR1) is associated with abdominal adiposity in obese men. Peeters A et al. 2007 Endocrine
17881126 No association of CNR1 gene variations with susceptibility to schizophrenia. Seifert J et al. 2007 Neuroscience letters
17942526 Polymorphisms of the cannabinoid 1 receptor gene and cognitive impairment in multiple sclerosis. Woolmore J et al. 2008 Multiple sclerosis (Houndmills, Basingstoke, England)
18179391 Association between single nucleotide polymorphisms in the cannabinoid receptor gene (CNR1) and impulsivity in southwest California Indians. Ehlers CL et al. 2007 Twin research and human genetics
18213623 Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorder. Lu AT et al. 2008 American journal of medical genetics. Part B, Neuropsychiatric genetics
18579347 Cannabinoid receptor 1 (CNR1) gene: impact on antidepressant treatment response and emotion processing in major depression. Domschke K et al. 2008 European neuropsychopharmacology
18606954 Cannabinoid receptor 1 gene association with nicotine dependence. Chen X et al. 2008 Archives of general psychiatry
18776593 Cannabinoid type-1 receptor gene polymorphisms are associated with central obesity in a Southern Brazilian population. Jaeger JP et al. 2008 Disease markers
19014633 Lack of association of genetic variants in genes of the endocannabinoid system with anorexia nervosa. Müller TD et al. 2008 Child and adolescent psychiatry and mental health
19016476 Evidence for association between polymorphisms in the cannabinoid receptor 1 (CNR1) gene and cannabis dependence. Agrawal A et al. 2009 American journal of medical genetics. Part B, Neuropsychiatric genetics
19018721 Genetic variation in cannabinoid receptor 1 (CNR1) is associated with derangements in lipid homeostasis, independent of body mass index. Baye TM et al. 2008 Pharmacogenomics
19052543 Interaction between two independent CNR1 variants increases risk for cocaine dependence in European Americans: a replication study in family-based sample and population-based sample. Zuo L et al. 2009 Neuropsychopharmacology
19093002 CB1 expression is attenuated in Fallopian tube and decidua of women with ectopic pregnancy. Horne AW et al. 2008 PloS one
19165169 Variants in the CNR1 and the FAAH genes and adiposity traits in the community. Lieb W et al. 2009 Obesity (Silver Spring, Md.)
19335651 Candidate genes for cannabis use disorders: findings, challenges and directions. Agrawal A et al. 2009 Addiction (Abingdon, England)
19443135 The association between cannabinoid receptor 1 gene (CNR1) and cannabis dependence symptoms in adolescents and young adults. Hartman CA et al. 2009 Drug and alcohol dependence
19659925 Association of CNR1 and FAAH endocannabinoid gene polymorphisms with anorexia nervosa and bulimia nervosa: evidence for synergistic effects. Monteleone P et al. 2009 Genes, brain, and behavior
19886064 The implication of CNR1 gene's polymorphisms in the modulation of endocannabinoid system effects. Dinu IR et al. 2009 Romanian journal of internal medicine = Revue roumaine de medecine interne
19944766 A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia. Meda SA et al. 2010 NeuroImage
20033240 Eating disorders: the current status of molecular genetic research. Scherag S et al. 2010 European child & adolescent psychiatry
20080186 Investigation of CNR1 and FAAH endocannabinoid gene polymorphisms in bipolar disorder and major depression. Monteleone P et al. 2010 Pharmacological research
20107430 A common polymorphism in the cannabinoid receptor 1 (CNR1) gene is associated with antipsychotic-induced weight gain in Schizophrenia. Tiwari AK et al. 2010 Neuropsychopharmacology
20192949 CNR1 gene polymorphisms in addictive disorders: a systematic review and a meta-analysis. Benyamina A et al. 2011 Addiction biology
20195480 The cannabinoid 1 receptor (CNR1) 1359 G/A polymorphism modulates susceptibility to ulcerative colitis and the phenotype in Crohn's disease. Storr M et al. 2010 PloS one
20204253 G1359A polymorphism of the cannabinoid receptor gene (CNR1) and insulin resistance in patients with diabetes mellitus type 2. de Luis DA et al. 2010 Nutricion hospitalaria
20415562 Role of genetic variation in the cannabinoid type 1 receptor gene (CNR1) in the pathophysiology of human obesity. Schleinitz D et al. 2010 Pharmacogenomics
20549395 Genetics of post-traumatic stress disorder: review and recommendations for genome-wide association studies. Cornelis MC et al. 2010 Current psychiatry reports
20587580 Polymorphisms in the endocannabinoid receptor 1 in relation to fat mass distribution. Frost M et al. 2010 European journal of endocrinology
20631561 Endocannabinoid Pro129Thr FAAH functional polymorphism but not 1359G/A CNR1 polymorphism is associated with antipsychotic-induced weight gain. Monteleone P et al. 2010 Journal of clinical psychopharmacology
20691427 Genetic associations of brain structural networks in schizophrenia: a preliminary study. Jagannathan K et al. 2010 Biological psychiatry
20838400 Are endocannabinoid type 1 receptor gene (CNR1) polymorphisms associated with obesity and metabolic syndrome in postmenopausal Polish women? Milewicz A et al. 2011 International journal of obesity (2005)
21129839 A common variation in the cannabinoid 1 receptor (CNR1) gene is associated with pre-eclampsia in the Central European population. Bienertova-Vasku J et al. 2011 European journal of obstetrics, gynecology, and reproductive biology
21143251 A candidate gene association study of alcohol consumption in young women. Agrawal A et al. 2011 Alcoholism, clinical and experimental research
21420833 Cannabinoid receptor 1 gene polymorphisms and marijuana misuse interactions on white matter and cognitive deficits in schizophrenia. Ho BC et al. 2011 Schizophrenia research
21477106 Association of genetic variation in cannabinoid mechanisms and gastric motor functions and satiation in overweight and obesity. Vazquez-Roque MI et al. 2011 Neurogastroenterology and motility
21633404 Variants at the endocannabinoid receptor CB1 gene (CNR1) and insulin sensitivity, type 2 diabetes, and coronary heart disease. de Miguel-Yanes JM et al. 2011 Obesity (Silver Spring, Md.)
21695734 Cannabinoid type 1 receptor gene polymorphisms are not associated with olanzapine-induced weight gain. Park YM et al. 2011 Human psychopharmacology
21714860 Variation in the human cannabinoid receptor CNR1 gene modulates gaze duration for happy faces. Chakrabarti B et al. 2011 Molecular autism
21798285 Endocannabinoid influence in drug reinforcement, dependence and addiction-related behaviors. Serrano A et al. 2011 Pharmacology & therapeutics
21808609 Components of cross-frequency modulation in health and disease. Allen EA et al. 2011 Frontiers in systems neuroscience
22085192 Cannabinoid receptor 1 gene is associated with alcohol dependence. Marcos M et al. 2012 Alcoholism, clinical and experimental research
22123166 Contributions of endocannabinoid signaling to psychiatric disorders in humans: genetic and biochemical evidence. Hillard CJ et al. 2012 Neuroscience
22194214 Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CBLB [correction of CLBL] genes. Varadé J et al. 2012 Multiple sclerosis (Houndmills, Basingstoke, England)
22393204 Cannabinoid receptor genotype moderation of the effects of childhood physical abuse on anhedonia and depression. Agrawal A et al. 2012 Archives of general psychiatry
22459871 A review of the interactions between alcohol and the endocannabinoid system: implications for alcohol dependence and future directions for research. Pava MJ et al. 2012 Alcohol (Fayetteville, N.Y.)
22473907 P-selectin genotype is associated with the development of cancer cachexia. Tan BH et al. 2012 EMBO molecular medicine
22567136 CNR1 genotype influences HDL-cholesterol response to change in dietary fat intake. Silver HJ et al. 2012 PloS one
22669173 Associations between cannabinoid receptor-1 (CNR1) variation and hippocampus and amygdala volumes in heavy cannabis users. Schacht JP et al. 2012 Neuropsychopharmacology
22826533 Genetic variability in the endocannabinoid system and 12-week clinical response to citalopram treatment: the role of the CNR1, CNR2 and FAAH genes. Mitjans M et al. 2012 Journal of psychopharmacology (Oxford, England)
22920733 Investigation of endocannabinoid system genes suggests association between peroxisome proliferator activator receptor-α gene (PPARA) and schizophrenia. Costa M et al. 2013 European neuropsychopharmacology
23010766 Failure to extinguish fear and genetic variability in the human cannabinoid receptor 1. Heitland I et al. 2012 Translational psychiatry
23092589 Colorado Twin Registry: an update. Rhea SA et al. 2013 Twin research and human genetics
23337343 Genetic variation in the cannabinoid receptor gene (CNR1) (G1359A polymorphism) and their influence on anthropometric parameters and metabolic parameters under a high monounsaturated vs. high polyunsaturated fat hypocaloric diets. de Luis DA et al. 2013 The Journal of nutritional biochemistry
23407780 Screening genetic variability at the CNR1 gene in both major depression etiology and clinical response to citalopram treatment. Mitjans M et al. 2013 Psychopharmacology
23422373 CNR1 gene and risk of the metabolic syndrome in patients with schizophrenia. Yu W et al. 2013 Journal of clinical psychopharmacology
23748922 A common functional promoter variant links CNR1 gene expression to HDL cholesterol level. Feng Q et al. 2013 Nature communications
23793356 Neuroimaging in psychiatric pharmacogenetics research: the promise and pitfalls. Falcone M et al. 2013 Neuropsychopharmacology
23799528 Moderation of antipsychotic-induced weight gain by energy balance gene variants in the RUPP autism network risperidone studies. Nurmi EL et al. 2013 Translational psychiatry
24172113 Impulsivity, variation in the cannabinoid receptor (CNR1) and fatty acid amide hydrolase (FAAH) genes, and marijuana-related problems. Bidwell LC et al. 2013 Journal of studies on alcohol and drugs
24180398 Endocannabinoid signaling in the etiology and treatment of major depressive illness. Hillard CJ et al. 2014 Current pharmaceutical design
24286185 Translational evidence for the involvement of the endocannabinoid system in stress-related psychiatric illnesses. Hill MN et al. 2013 Biology of mood & anxiety disorders
24319431 Mechanisms of antidepressant resistance. El-Hage W et al. 2013 Frontiers in pharmacology
24322329 Role of genetic variation in the cannabinoid receptor gene (CNR1) (G1359A polymorphism) on weight loss and cardiovascular risk factors after liraglutide treatment in obese patients with diabetes mellitus type 2. de Luis DA et al. 2014 Journal of investigative medicine
24407958 Risky alcohol consumption in young people is associated with the fatty acid amide hydrolase gene polymorphism C385A and affective rating of drug pictures. Bühler KM et al. 2014 Molecular genetics and genomics
24596569 Gene-environment interactions and intermediate phenotypes: early trauma and depression. Hornung OP et al. 2014 Frontiers in endocrinology
24980155 Role of CNR1 polymorphisms in moderating the effects of psychosocial adversity on impulsivity in adolescents. Buchmann AF et al. 2015 Journal of neural transmission (Vienna, Austria
25045619 The Genetics, Neurogenetics and Pharmacogenetics of Addiction. Demers CH et al. 2014 Current behavioral neuroscience reports
25093427 Selected CNR1 polymorphisms and hyperandrogenemia as well as fat mass and fat distribution in women with polycystic ovary syndrome. Jędrzejuk D et al. 2015 Gynecological endocrinology
25116250 Genetic variability in the human cannabinoid receptor 1 is associated with resting state EEG theta power in humans. Heitland I et al. 2014 Behavioural brain research
25136364 Cannabinoid receptor 1 gene polymorphisms and nonalcoholic Fatty liver disease in women with polycystic ovary syndrome and in healthy controls. Kuliczkowska Plaksej J et al. 2014 International journal of endocrinology
25252306 [Association study of CNR1, GAD1 and BDNF polymorphisms with male heroin dependence in the Dai population in Yunnan]. Yang Y et al. 2014 Yi chuan = Hereditas
25268406 Cannabinoid receptor gene polymorphisms and bone mineral density in Korean postmenopausal women. Woo JH et al. 2015 Menopause (New York, N.Y.)
25368670 CardioGxE, a catalog of gene-environment interactions for cardiometabolic traits. Parnell LD et al. 2014 BioData mining
25477898 Replication of obesity and diabetes-related SNP associations in individuals from Yucatán, México. Hernandez-Escalante VM et al. 2014 Frontiers in genetics
25664923 Association of G1359A polymorphism of the cannabinoid receptor gene (CNR1) with macronutrient intakes in obese females. de Luis DA et al. 2016 Journal of human nutrition and dietetics
26071625 Brain structural and clinical changes after first episode psychosis: Focus on cannabinoid receptor 1 polymorphisms. Suárez-Pinilla P et al. 2015 Psychiatry research
26131011 Lack of association of DRD3 and CNR1 polymorphisms with premenstrual dysphoric disorders. Yıldız M et al. 2015 Iranian journal of reproductive medicine
26527537 The role of the cannabinoid receptor in adolescents' processing of facial expressions. Ewald A et al. 2016 The European journal of neuroscience
26648684 Update on genetics and diabetic retinopathy. Hampton BM et al. 2015 Clinical ophthalmology (Auckland, N.Z.)
26753847 Parent and peer influences on emerging adult substance use disorder: A genetically informed study. Bountress K et al. 2017 Development and psychopathology
27034934 Uremic Pruritus Is Not Associated with Endocannabinoid Receptor 1 Gene Polymorphisms. Heisig M et al. 2016 BioMed research international
27217270 Pharmacogenetic Associations of Antipsychotic Drug-Related Weight Gain: A Systematic Review and Meta-analysis. Zhang JP et al. 2016 Schizophrenia bulletin
27500453 Lifetime use of cannabis from longitudinal assessments, cannabinoid receptor (CNR1) variation, and reduced volume of the right anterior cingulate. Hill SY et al. 2016 Psychiatry research. Neuroimaging
27895608 Genetic Consideration of Schizotypal Traits: A Review. Walter EE et al. 2016 Frontiers in psychology
28534260 Pharmacogenetics of Cannabinoids. Hryhorowicz S et al. 2018 European journal of drug metabolism and pharmacokinetics
28930056 Developmentally Specific Associations Between CNR1 Genotype and Cannabis Use Across Emerging Adulthood. Ashenhurst JR et al. 2017 Journal of studies on alcohol and drugs
29353877 Gene variants and educational attainment in cannabis use: mediating role of DNA methylation. Gerra MC et al. 2018 Translational psychiatry
30016776 G1359A Variant of the Cannabinoid Receptor Gene (rs1049353) and Obesity-Related Traits and Related Endophenotypes: A Meta-Analysis. Sadeghian M et al. 2018 Annals of nutrition & metabolism
30129173 Genetic polymorphisms of the endocannabinoid system in obesity and diabetes. Doris JM et al. 2019 Diabetes, obesity & metabolism
30237658 Association between gene polymorphisms and obesity and physical fitness in Korean children. Kim HJ et al. 2018 Biology of sport
30239920 An endocannabinoid receptor polymorphism modulates affective processing under stress. Wirz L et al. 2018 Social cognitive and affective neuroscience
30546300 Can Your DNA Influence Your Bet-Placing? The Impact of Cannabinoid Receptor 1 Gene on Gambling Tasks. Qin H et al. 2018 Frontiers in human neuroscience
31013550 Acute effects of cannabinoids on addiction endophenotypes are moderated by genes encoding the CB1 receptor and FAAH enzyme. Hindocha C et al. 2019 Addiction biology
31184938 <i>CNR1</i> and <i>FAAH</i> variation and affective states induced by marijuana smoking. Palmer RHC et al. 2019 The American journal of drug and alcohol abuse

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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