Name: rs1042717
Published: September 21, 2022
License: Open Access

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.

rs1042717

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:148827083 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.206983 (68501/330950, ALFA)
A=0.264222 (69937/264690, TOPMED)
A=0.245587 (34423/140166, GnomAD) (+ 25 more)
A=0.33718 (26536/78700, PAGE_STUDY)
A=0.40141 (11343/28258, 14KJPN)
A=0.39982 (6701/16760, 8.3KJPN)
A=0.24173 (3144/13006, GO-ESP)
A=0.3136 (2008/6404, 1000G_30x)
A=0.3147 (1576/5008, 1000G)
A=0.1752 (785/4480, Estonian)
A=0.2455 (1058/4310, PharmGKB)
A=0.1850 (713/3854, ALSPAC)
A=0.1869 (693/3708, TWINSUK)
A=0.4216 (1383/3280, PRJNA289433)
A=0.3454 (1012/2930, KOREAN)
A=0.3063 (579/1890, HapMap)
A=0.3472 (636/1832, Korea1K)
A=0.2716 (308/1134, Daghestan)
A=0.176 (176/998, GoNL)
A=0.331 (262/792, PRJEB37584)
A=0.368 (226/614, Vietnamese)
A=0.155 (93/600, NorthernSweden)
A=0.170 (91/534, MGP)
A=0.199 (60/302, FINRISK)
G=0.398 (113/284, SGDP_PRJ)
A=0.398 (86/216, Qatari)
A=0.15 (6/40, GENOME_DK)
G=0.44 (7/16, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ADRB2 : Synonymous Variant
Publications: 15 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	352436	G=0.791412	A=0.208588
European	Sub	306322	G=0.803785	A=0.196215
African	Sub	14560	G=0.68242	A=0.31758
African Others	Sub	564	G=0.647	A=0.353
African American	Sub	13996	G=0.68384	A=0.31616
Asian	Sub	3986	G=0.6766	A=0.3234
East Asian	Sub	3210	G=0.6583	A=0.3417
Other Asian	Sub	776	G=0.753	A=0.247
Latin American 1	Sub	1424	G=0.7282	A=0.2718
Latin American 2	Sub	3178	G=0.6611	A=0.3389
South Asian	Sub	5226	G=0.6600	A=0.3400
Other	Sub	17740	G=0.76015	A=0.23985

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	330950	G=0.793017	A=0.206983
Allele Frequency Aggregator	European	Sub	293066	G=0.803423	A=0.196577
Allele Frequency Aggregator	Other	Sub	15490	G=0.76178	A=0.23822
Allele Frequency Aggregator	African	Sub	8580	G=0.6887	A=0.3113
Allele Frequency Aggregator	South Asian	Sub	5226	G=0.6600	A=0.3400
Allele Frequency Aggregator	Asian	Sub	3986	G=0.6766	A=0.3234
Allele Frequency Aggregator	Latin American 2	Sub	3178	G=0.6611	A=0.3389
Allele Frequency Aggregator	Latin American 1	Sub	1424	G=0.7282	A=0.2718
TopMed	Global	Study-wide	264690	G=0.735778	A=0.264222
gnomAD - Genomes	Global	Study-wide	140166	G=0.754413	A=0.245587
gnomAD - Genomes	European	Sub	75934	G=0.81294	A=0.18706
gnomAD - Genomes	African	Sub	41976	G=0.67672	A=0.32328
gnomAD - Genomes	American	Sub	13652	G=0.67836	A=0.32164
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.8032	A=0.1968
gnomAD - Genomes	East Asian	Sub	3130	G=0.6744	A=0.3256
gnomAD - Genomes	Other	Sub	2150	G=0.7279	A=0.2721
The PAGE Study	Global	Study-wide	78700	G=0.66282	A=0.33718
The PAGE Study	AfricanAmerican	Sub	32514	G=0.67469	A=0.32531
The PAGE Study	Mexican	Sub	10810	G=0.62451	A=0.37549
The PAGE Study	Asian	Sub	8318	G=0.6095	A=0.3905
The PAGE Study	PuertoRican	Sub	7918	G=0.7287	A=0.2713
The PAGE Study	NativeHawaiian	Sub	4534	G=0.5569	A=0.4431
The PAGE Study	Cuban	Sub	4230	G=0.7418	A=0.2582
The PAGE Study	Dominican	Sub	3828	G=0.6886	A=0.3114
The PAGE Study	CentralAmerican	Sub	2450	G=0.6159	A=0.3841
The PAGE Study	SouthAmerican	Sub	1982	G=0.6660	A=0.3340
The PAGE Study	NativeAmerican	Sub	1260	G=0.7492	A=0.2508
The PAGE Study	SouthAsian	Sub	856	G=0.659	A=0.341
14KJPN	JAPANESE	Study-wide	28258	G=0.59859	A=0.40141
8.3KJPN	JAPANESE	Study-wide	16760	G=0.60018	A=0.39982
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.75827	A=0.24173
GO Exome Sequencing Project	European American	Sub	8600	G=0.8021	A=0.1979
GO Exome Sequencing Project	African American	Sub	4406	G=0.6727	A=0.3273
1000Genomes_30x	Global	Study-wide	6404	G=0.6864	A=0.3136
1000Genomes_30x	African	Sub	1786	G=0.6585	A=0.3415
1000Genomes_30x	Europe	Sub	1266	G=0.8041	A=0.1959
1000Genomes_30x	South Asian	Sub	1202	G=0.6498	A=0.3502
1000Genomes_30x	East Asian	Sub	1170	G=0.6299	A=0.3701
1000Genomes_30x	American	Sub	980	G=0.698	A=0.302
1000Genomes	Global	Study-wide	5008	G=0.6853	A=0.3147
1000Genomes	African	Sub	1322	G=0.6596	A=0.3404
1000Genomes	East Asian	Sub	1008	G=0.6359	A=0.3641
1000Genomes	Europe	Sub	1006	G=0.8012	A=0.1988
1000Genomes	South Asian	Sub	978	G=0.641	A=0.359
1000Genomes	American	Sub	694	G=0.700	A=0.300
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8248	A=0.1752
PharmGKB Aggregated	Global	Study-wide	4310	G=0.7545	A=0.2455
PharmGKB Aggregated	PA128523244	Sub	1954	G=0.7646	A=0.2354
PharmGKB Aggregated	PA143089172	Sub	938	G=0.758	A=0.242
PharmGKB Aggregated	PA129185703	Sub	698	G=0.745	A=0.255
PharmGKB Aggregated	PA129947801	Sub	438	G=0.756	A=0.244
PharmGKB Aggregated	PA129965075	Sub	192	G=0.693	A=0.307
PharmGKB Aggregated	PA142648497	Sub	90	G=0.70	A=0.30
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8150	A=0.1850
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8131	A=0.1869
MxGDAR/Encodat-PGx	Global	Study-wide	3280	G=0.5784	A=0.4216
MxGDAR/Encodat-PGx	MxGDAR	Sub	3280	G=0.5784	A=0.4216
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.6546	A=0.3454
HapMap	Global	Study-wide	1890	G=0.6937	A=0.3063
HapMap	American	Sub	770	G=0.716	A=0.284
HapMap	African	Sub	690	G=0.694	A=0.306
HapMap	Asian	Sub	254	G=0.591	A=0.409
HapMap	Europe	Sub	176	G=0.744	A=0.256
Korean Genome Project	KOREAN	Study-wide	1832	G=0.6528	A=0.3472
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	G=0.7284	A=0.2716
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	G=0.740	A=0.260
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	G=0.739	A=0.261
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.607	A=0.393
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.769	A=0.231
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=0.71	A=0.29
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.81	A=0.19
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.824	A=0.176
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.669	A=0.331
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.669	A=0.331
A Vietnamese Genetic Variation Database	Global	Study-wide	614	G=0.632	A=0.368
Northern Sweden	ACPOP	Study-wide	600	G=0.845	A=0.155
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.830	A=0.170
FINRISK	Finnish from FINRISK project	Study-wide	302	G=0.801	A=0.199
SGDP_PRJ	Global	Study-wide	284	G=0.398	A=0.602
Qatari	Global	Study-wide	216	G=0.602	A=0.398
The Danish reference pan genome	Danish	Study-wide	40	G=0.85	A=0.15
Siberian	Global	Study-wide	16	G=0.44	A=0.56

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 5	NC_000005.10:g.148827083G>A
GRCh38.p14 chr 5	NC_000005.10:g.148827083G>C
GRCh37.p13 chr 5	NC_000005.9:g.148206646G>A
GRCh37.p13 chr 5	NC_000005.9:g.148206646G>C
ADRB2 RefSeqGene	NG_016421.2:g.5491G>A
ADRB2 RefSeqGene	NG_016421.2:g.5491G>C

Gene: ADRB2, adrenoceptor beta 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ADRB2 transcript	NM_000024.6:c.252G>A	L [CTG] > L [CTA]	Coding Sequence Variant
beta-2 adrenergic receptor	NP_000015.2:p.Leu84=	L (Leu) > L (Leu)	Synonymous Variant
ADRB2 transcript	NM_000024.6:c.252G>C	L [CTG] > L [CTC]	Coding Sequence Variant
beta-2 adrenergic receptor	NP_000015.2:p.Leu84=	L (Leu) > L (Leu)	Synonymous Variant

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.

Allele: A (allele ID: 1215437 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001611030.3	not provided	Benign

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	C
GRCh38.p14 chr 5	NC_000005.10:g.148827083=	NC_000005.10:g.148827083G>A	NC_000005.10:g.148827083G>C
GRCh37.p13 chr 5	NC_000005.9:g.148206646=	NC_000005.9:g.148206646G>A	NC_000005.9:g.148206646G>C
ADRB2 RefSeqGene	NG_016421.2:g.5491=	NG_016421.2:g.5491G>A	NG_016421.2:g.5491G>C
ADRB2 transcript	NM_000024.6:c.252=	NM_000024.6:c.252G>A	NM_000024.6:c.252G>C
ADRB2 transcript	NM_000024.5:c.252=	NM_000024.5:c.252G>A	NM_000024.5:c.252G>C
beta-2 adrenergic receptor	NP_000015.2:p.Leu84=	NP_000015.2:p.Leu84=	NP_000015.2:p.Leu84=
beta-2 adrenergic receptor	NP_000015.1:p.Leu84=	NP_000015.1:p.Leu84=	NP_000015.1:p.Leu84=

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#.

170 SubSNP, 32 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	LEE	ss1510180	Oct 05, 2000 (86)
2	WIPGA	ss4915877	Aug 28, 2002 (108)
3	WIPGA	ss4916128	Aug 28, 2002 (108)
4	HG_BONN_CNS_SNPS	ss12586697	Aug 26, 2003 (117)
5	CGAP-GAI	ss16227075	Feb 27, 2004 (120)
6	CSHL-HAPMAP	ss17844515	Feb 27, 2004 (120)
7	CSHL-HAPMAP	ss19626470	Feb 27, 2004 (120)
8	IMCJ-GDT	ss22886617	Apr 05, 2004 (121)
9	PERLEGEN	ss23763023	Sep 20, 2004 (123)
10	MGC_GENOME_DIFF	ss28497724	Sep 24, 2004 (126)
11	MGC_GENOME_DIFF	ss28512486	Sep 24, 2004 (126)
12	ABI	ss44633823	Mar 11, 2006 (126)
13	PGA-UW-FHCRC	ss46533169	Mar 11, 2006 (126)
14	APPLERA_GI	ss48427715	Mar 11, 2006 (126)
15	UCSF_HG	ss49783232	Mar 11, 2006 (126)
16	ILLUMINA	ss65740196	Oct 16, 2006 (127)
17	PHARMGKB_PCE	ss69365437	May 18, 2007 (127)
18	PHARMGKB_PHAT	ss69368006	May 18, 2007 (127)
19	PHARMGKB_APP	ss69369606	May 18, 2007 (127)
20	PHARMGKB_APP	ss69369806	May 18, 2007 (127)
21	PHARMGKB_APP	ss69370062	May 18, 2007 (127)
22	PHARMGKB_APP	ss69370306	May 18, 2007 (127)
23	TAPPERS	ss69371811	May 18, 2007 (127)
24	ILLUMINA	ss74865151	Dec 06, 2007 (129)
25	HGSV	ss80268554	Dec 15, 2007 (130)
26	BCMHGSC_JDW	ss93286315	Mar 24, 2008 (129)
27	BGI	ss104249463	Dec 01, 2009 (131)
28	1000GENOMES	ss109502593	Jan 24, 2009 (130)
29	ILLUMINA-UK	ss116853633	Feb 14, 2009 (130)
30	KRIBB_YJKIM	ss119379474	Dec 01, 2009 (131)
31	ENSEMBL	ss143519829	Dec 01, 2009 (131)
32	ILLUMINA	ss152723840	Dec 01, 2009 (131)
33	GMI	ss156154959	Dec 01, 2009 (131)
34	ILLUMINA	ss159123189	Dec 01, 2009 (131)
35	SEATTLESEQ	ss159710483	Dec 01, 2009 (131)
36	ILLUMINA	ss159892650	Dec 01, 2009 (131)
37	ILLUMINA	ss170065572	Jul 04, 2010 (132)
38	BUSHMAN	ss201006937	Jul 04, 2010 (132)
39	BCM-HGSC-SUB	ss207182837	Jul 04, 2010 (132)
40	1000GENOMES	ss211733879	Jul 14, 2010 (132)
41	1000GENOMES	ss222028645	Jul 14, 2010 (132)
42	1000GENOMES	ss233192413	Jul 14, 2010 (132)
43	1000GENOMES	ss240305955	Jul 15, 2010 (132)
44	BL	ss253877621	May 09, 2011 (134)
45	RSG_JCVI	ss262866274	May 09, 2011 (134)
46	GMI	ss278525023	May 04, 2012 (137)
47	PJP	ss293490464	May 09, 2011 (134)
48	NHLBI-ESP	ss342193385	May 09, 2011 (134)
49	ILLUMINA	ss479264303	May 04, 2012 (137)
50	ILLUMINA	ss479267204	May 04, 2012 (137)
51	ILLUMINA	ss479636448	Sep 08, 2015 (146)
52	ILLUMINA	ss484432820	May 04, 2012 (137)
53	1000GENOMES	ss490913371	May 04, 2012 (137)
54	CLINSEQ_SNP	ss491875588	May 04, 2012 (137)
55	ILLUMINA	ss536604148	Sep 08, 2015 (146)
56	TISHKOFF	ss558785527	Apr 25, 2013 (138)
57	SSMP	ss652689238	Apr 25, 2013 (138)
58	ILLUMINA	ss778355638	Sep 08, 2015 (146)
59	ILLUMINA	ss782662874	Sep 08, 2015 (146)
60	ILLUMINA	ss783631756	Sep 08, 2015 (146)
61	ILLUMINA	ss831913402	Sep 08, 2015 (146)
62	ILLUMINA	ss832635908	Jul 13, 2019 (153)
63	ILLUMINA	ss833810378	Sep 08, 2015 (146)
64	JMKIDD_LAB	ss974457598	Aug 21, 2014 (142)
65	EVA-GONL	ss982244498	Aug 21, 2014 (142)
66	JMKIDD_LAB	ss1067472511	Aug 21, 2014 (142)
67	JMKIDD_LAB	ss1073130454	Aug 21, 2014 (142)
68	1000GENOMES	ss1317693452	Aug 21, 2014 (142)
69	HAMMER_LAB	ss1397430769	Sep 08, 2015 (146)
70	DDI	ss1430535521	Apr 01, 2015 (144)
71	EVA_GENOME_DK	ss1581396236	Apr 01, 2015 (144)
72	EVA_FINRISK	ss1584041840	Apr 01, 2015 (144)
73	EVA_DECODE	ss1591776849	Apr 01, 2015 (144)
74	EVA_UK10K_ALSPAC	ss1614268117	Apr 01, 2015 (144)
75	EVA_UK10K_TWINSUK	ss1657262150	Apr 01, 2015 (144)
76	EVA_EXAC	ss1688029190	Apr 01, 2015 (144)
77	EVA_EXAC	ss1688029191	Apr 01, 2015 (144)
78	EVA_MGP	ss1711101807	Apr 01, 2015 (144)
79	EVA_SVP	ss1712809105	Apr 01, 2015 (144)
80	ILLUMINA	ss1752555224	Sep 08, 2015 (146)
81	HAMMER_LAB	ss1804132076	Sep 08, 2015 (146)
82	WEILL_CORNELL_DGM	ss1925498523	Feb 12, 2016 (147)
83	ILLUMINA	ss1946158855	Feb 12, 2016 (147)
84	ILLUMINA	ss1958832775	Feb 12, 2016 (147)
85	JJLAB	ss2023356561	Sep 14, 2016 (149)
86	USC_VALOUEV	ss2151515053	Dec 20, 2016 (150)
87	HUMAN_LONGEVITY	ss2279156592	Dec 20, 2016 (150)
88	SYSTEMSBIOZJU	ss2626166629	Nov 08, 2017 (151)
89	ILLUMINA	ss2634354529	Nov 08, 2017 (151)
90	ILLUMINA	ss2635150171	Nov 08, 2017 (151)
91	GRF	ss2707084333	Nov 08, 2017 (151)
92	ILLUMINA	ss2711051571	Nov 08, 2017 (151)
93	GNOMAD	ss2735340165	Nov 08, 2017 (151)
94	GNOMAD	ss2747484756	Nov 08, 2017 (151)
95	GNOMAD	ss2832147606	Nov 08, 2017 (151)
96	AFFY	ss2985339162	Nov 08, 2017 (151)
97	AFFY	ss2985970872	Nov 08, 2017 (151)
98	SWEGEN	ss2997982679	Nov 08, 2017 (151)
99	ILLUMINA	ss3022540968	Nov 08, 2017 (151)
100	BIOINF_KMB_FNS_UNIBA	ss3025460094	Nov 08, 2017 (151)
101	CSHL	ss3346678472	Nov 08, 2017 (151)
102	ILLUMINA	ss3625886140	Oct 12, 2018 (152)
103	ILLUMINA	ss3629367636	Oct 12, 2018 (152)
104	ILLUMINA	ss3632277642	Oct 12, 2018 (152)
105	ILLUMINA	ss3633393765	Oct 12, 2018 (152)
106	ILLUMINA	ss3634115128	Oct 12, 2018 (152)
107	ILLUMINA	ss3635027932	Oct 12, 2018 (152)
108	ILLUMINA	ss3635796775	Oct 12, 2018 (152)
109	ILLUMINA	ss3636741121	Oct 12, 2018 (152)
110	ILLUMINA	ss3637549431	Oct 12, 2018 (152)
111	ILLUMINA	ss3638587580	Oct 12, 2018 (152)
112	ILLUMINA	ss3640735226	Oct 12, 2018 (152)
113	ILLUMINA	ss3641186413	Oct 12, 2018 (152)
114	ILLUMINA	ss3641483425	Oct 12, 2018 (152)
115	ILLUMINA	ss3643531064	Oct 12, 2018 (152)
116	ILLUMINA	ss3644891854	Oct 12, 2018 (152)
117	OMUKHERJEE_ADBS	ss3646326218	Oct 12, 2018 (152)
118	ILLUMINA	ss3653043948	Oct 12, 2018 (152)
119	ILLUMINA	ss3654111348	Oct 12, 2018 (152)
120	EGCUT_WGS	ss3665902717	Jul 13, 2019 (153)
121	EVA_DECODE	ss3715930585	Jul 13, 2019 (153)
122	ILLUMINA	ss3726280663	Jul 13, 2019 (153)
123	ACPOP	ss3732916316	Jul 13, 2019 (153)
124	ILLUMINA	ss3744261495	Jul 13, 2019 (153)
125	ILLUMINA	ss3745328106	Jul 13, 2019 (153)
126	EVA	ss3764207367	Jul 13, 2019 (153)
127	PAGE_CC	ss3771239017	Jul 13, 2019 (153)
128	ILLUMINA	ss3772822059	Jul 13, 2019 (153)
129	KHV_HUMAN_GENOMES	ss3807376596	Jul 13, 2019 (153)
130	EVA	ss3824127589	Apr 26, 2020 (154)
131	EVA	ss3825682929	Apr 26, 2020 (154)
132	EVA	ss3829561450	Apr 26, 2020 (154)
133	SGDP_PRJ	ss3863219826	Apr 26, 2020 (154)
134	KRGDB	ss3909894981	Apr 26, 2020 (154)
135	KOGIC	ss3957872250	Apr 26, 2020 (154)
136	FSA-LAB	ss3984319577	Apr 26, 2021 (155)
137	FSA-LAB	ss3984319578	Apr 26, 2021 (155)
138	EVA	ss3984448337	Apr 26, 2021 (155)
139	EVA	ss3984556073	Apr 26, 2021 (155)
140	EVA	ss3986032112	Apr 26, 2021 (155)
141	EVA	ss3986324014	Apr 26, 2021 (155)
142	TOPMED	ss4682905285	Apr 26, 2021 (155)
143	TOMMO_GENOMICS	ss5174683009	Apr 26, 2021 (155)
144	EVA	ss5237017013	Apr 26, 2021 (155)
145	EVA	ss5237187695	Apr 26, 2021 (155)
146	EVA	ss5237381713	Apr 26, 2021 (155)
147	EVA	ss5237644490	Oct 13, 2022 (156)
148	1000G_HIGH_COVERAGE	ss5266260627	Oct 13, 2022 (156)
149	TRAN_CS_UWATERLOO	ss5314414100	Oct 13, 2022 (156)
150	EVA	ss5315094241	Oct 13, 2022 (156)
151	EVA	ss5361730399	Oct 13, 2022 (156)
152	HUGCELL_USP	ss5464182330	Oct 13, 2022 (156)
153	EVA	ss5508253270	Oct 13, 2022 (156)
154	1000G_HIGH_COVERAGE	ss5551124920	Oct 13, 2022 (156)
155	EVA	ss5624151365	Oct 13, 2022 (156)
156	SANFORD_IMAGENETICS	ss5624604686	Oct 13, 2022 (156)
157	SANFORD_IMAGENETICS	ss5639116927	Oct 13, 2022 (156)
158	TOMMO_GENOMICS	ss5711918957	Oct 13, 2022 (156)
159	EVA	ss5799665361	Oct 13, 2022 (156)
160	EVA	ss5800124847	Oct 13, 2022 (156)
161	YY_MCH	ss5806865898	Oct 13, 2022 (156)
162	EVA	ss5835802316	Oct 13, 2022 (156)
163	EVA	ss5847276598	Oct 13, 2022 (156)
164	EVA	ss5848069002	Oct 13, 2022 (156)
165	EVA	ss5848637781	Oct 13, 2022 (156)
166	EVA	ss5855064164	Oct 13, 2022 (156)
167	EVA	ss5896806221	Oct 13, 2022 (156)
168	EVA	ss5967595845	Oct 13, 2022 (156)
169	EVA	ss5979758248	Oct 13, 2022 (156)
170	EVA	ss5981231094	Oct 13, 2022 (156)
171	1000Genomes	NC_000005.9 - 148206646	Oct 12, 2018 (152)
172	1000Genomes_30x	NC_000005.10 - 148827083	Oct 13, 2022 (156)
173	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 148206646	Oct 12, 2018 (152)
174	Genome-wide autozygosity in Daghestan	NC_000005.8 - 148186839	Apr 26, 2020 (154)
175	Genetic variation in the Estonian population	NC_000005.9 - 148206646	Oct 12, 2018 (152)
176	ExAC Submission ignored due to conflicting rows: Row 8038275 (NC_000005.9:148206645:G:G 89650/120730, NC_000005.9:148206645:G:A 31080/120730) Row 8038276 (NC_000005.9:148206645:G:G 120729/120730, NC_000005.9:148206645:G:C 1/120730)	-	Oct 12, 2018 (152)
177	ExAC Submission ignored due to conflicting rows: Row 8038275 (NC_000005.9:148206645:G:G 89650/120730, NC_000005.9:148206645:G:A 31080/120730) Row 8038276 (NC_000005.9:148206645:G:G 120729/120730, NC_000005.9:148206645:G:C 1/120730)	-	Oct 12, 2018 (152)
178	FINRISK	NC_000005.9 - 148206646	Apr 26, 2020 (154)
179	The Danish reference pan genome	NC_000005.9 - 148206646	Apr 26, 2020 (154)
180	gnomAD - Genomes	NC_000005.10 - 148827083	Apr 26, 2021 (155)
181	gnomAD - Exomes Submission ignored due to conflicting rows: Row 4471296 (NC_000005.9:148206645:G:G 186463/250862, NC_000005.9:148206645:G:A 64399/250862) Row 4471297 (NC_000005.9:148206645:G:G 250861/250862, NC_000005.9:148206645:G:C 1/250862)	-	Jul 13, 2019 (153)
182	gnomAD - Exomes Submission ignored due to conflicting rows: Row 4471296 (NC_000005.9:148206645:G:G 186463/250862, NC_000005.9:148206645:G:A 64399/250862) Row 4471297 (NC_000005.9:148206645:G:G 250861/250862, NC_000005.9:148206645:G:C 1/250862)	-	Jul 13, 2019 (153)
183	GO Exome Sequencing Project	NC_000005.9 - 148206646	Oct 12, 2018 (152)
184	Genome of the Netherlands Release 5	NC_000005.9 - 148206646	Apr 26, 2020 (154)
185	HapMap	NC_000005.10 - 148827083	Apr 26, 2020 (154)
186	KOREAN population from KRGDB	NC_000005.9 - 148206646	Apr 26, 2020 (154)
187	Korean Genome Project	NC_000005.10 - 148827083	Apr 26, 2020 (154)
188	Medical Genome Project healthy controls from Spanish population	NC_000005.9 - 148206646	Apr 26, 2020 (154)
189	Northern Sweden	NC_000005.9 - 148206646	Jul 13, 2019 (153)
190	The PAGE Study	NC_000005.10 - 148827083	Jul 13, 2019 (153)
191	CNV burdens in cranial meningiomas	NC_000005.9 - 148206646	Apr 26, 2021 (155)
192	MxGDAR/Encodat-PGx	NC_000005.9 - 148206646	Apr 26, 2021 (155)
193	PharmGKB Aggregated	NC_000005.10 - 148827083	Apr 26, 2020 (154)
194	Qatari	NC_000005.9 - 148206646	Apr 26, 2020 (154)
195	SGDP_PRJ	NC_000005.9 - 148206646	Apr 26, 2020 (154)
196	Siberian	NC_000005.9 - 148206646	Apr 26, 2020 (154)
197	8.3KJPN	NC_000005.9 - 148206646	Apr 26, 2021 (155)
198	14KJPN	NC_000005.10 - 148827083	Oct 13, 2022 (156)
199	TopMed	NC_000005.10 - 148827083	Apr 26, 2021 (155)
200	UK 10K study - Twins	NC_000005.9 - 148206646	Oct 12, 2018 (152)
201	A Vietnamese Genetic Variation Database	NC_000005.9 - 148206646	Jul 13, 2019 (153)
202	ALFA	NC_000005.10 - 148827083	Apr 26, 2021 (155)
203	ClinVar	RCV001611030.3	Oct 13, 2022 (156)

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)
rs3729605	Oct 08, 2002 (108)
rs17287397	Mar 11, 2006 (126)
rs17287481	Mar 11, 2006 (126)
rs17334214	Mar 11, 2006 (126)
rs17845339	Mar 11, 2006 (126)
rs17858184	Mar 11, 2006 (126)
rs59974036	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
405582, ss80268554, ss93286315, ss109502593, ss116853633, ss201006937, ss207182837, ss211733879, ss253877621, ss278525023, ss293490464, ss479264303, ss491875588, ss1397430769, ss1591776849, ss1712809105, ss2635150171, ss3643531064	NC_000005.8:148186838:G:A	NC_000005.10:148827082:G:A	(self)
29388926, 16351766, 11640965, 38301, 7561175, 585680, 7260318, 17072375, 217567, 6201181, 105445, 1338, 7540453, 15236806, 4031407, 32652316, 16351766, 3624068, ss222028645, ss233192413, ss240305955, ss342193385, ss479267204, ss479636448, ss484432820, ss490913371, ss536604148, ss558785527, ss652689238, ss778355638, ss782662874, ss783631756, ss831913402, ss832635908, ss833810378, ss974457598, ss982244498, ss1067472511, ss1073130454, ss1317693452, ss1430535521, ss1581396236, ss1584041840, ss1614268117, ss1657262150, ss1688029190, ss1711101807, ss1752555224, ss1804132076, ss1925498523, ss1946158855, ss1958832775, ss2023356561, ss2151515053, ss2626166629, ss2634354529, ss2707084333, ss2711051571, ss2735340165, ss2747484756, ss2832147606, ss2985339162, ss2985970872, ss2997982679, ss3022540968, ss3346678472, ss3625886140, ss3629367636, ss3632277642, ss3633393765, ss3634115128, ss3635027932, ss3635796775, ss3636741121, ss3637549431, ss3638587580, ss3640735226, ss3641186413, ss3641483425, ss3644891854, ss3646326218, ss3653043948, ss3654111348, ss3665902717, ss3732916316, ss3744261495, ss3745328106, ss3764207367, ss3772822059, ss3824127589, ss3825682929, ss3829561450, ss3863219826, ss3909894981, ss3984319577, ss3984319578, ss3984448337, ss3984556073, ss3986032112, ss3986324014, ss5174683009, ss5237381713, ss5315094241, ss5361730399, ss5508253270, ss5624151365, ss5624604686, ss5639116927, ss5799665361, ss5800124847, ss5835802316, ss5847276598, ss5848069002, ss5848637781, ss5967595845, ss5979758248, ss5981231094	NC_000005.9:148206645:G:A	NC_000005.10:148827082:G:A	(self)
RCV001611030.3, 38650855, 207885767, 2992219, 14250251, 460486, 10506, 45756061, 520282842, 7964594140, ss2279156592, ss3025460094, ss3715930585, ss3726280663, ss3771239017, ss3807376596, ss3957872250, ss4682905285, ss5237017013, ss5237187695, ss5237644490, ss5266260627, ss5314414100, ss5464182330, ss5551124920, ss5711918957, ss5806865898, ss5855064164, ss5896806221	NC_000005.10:148827082:G:A	NC_000005.10:148827082:G:A	(self)
ss17844515, ss19626470	NT_029289.10:9369581:G:A	NC_000005.10:148827082:G:A	(self)
ss1510180, ss4915877, ss4916128, ss12586697, ss16227075, ss22886617, ss23763023, ss28497724, ss28512486, ss44633823, ss46533169, ss48427715, ss49783232, ss65740196, ss69365437, ss69368006, ss69369606, ss69369806, ss69370062, ss69370306, ss69371811, ss74865151, ss104249463, ss119379474, ss143519829, ss152723840, ss156154959, ss159123189, ss159710483, ss159892650, ss170065572, ss262866274	NT_029289.11:9369572:G:A	NC_000005.10:148827082:G:A	(self)
ss1688029191, ss2735340165	NC_000005.9:148206645:G:C	NC_000005.10:148827082:G:C	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

15 citations for rs1042717

PMID	Title	Author	Year	Journal
16741943	Three major haplotypes of the beta2 adrenergic receptor define psychological profile, blood pressure, and the risk for development of a common musculoskeletal pain disorder.	Diatchenko L et al.	2006	American journal of medical genetics. Part B, Neuropsychiatric genetics
18640383	Genotypes and haplotypes of beta2-adrenergic receptor and parameters of the metabolic syndrome in Korean adolescents.	Park HS et al.	2008	Metabolism
18709160	Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease.	Melén E et al.	2008	Environmental health perspectives
19111454	Genetic association analysis of COPD candidate genes with bronchodilator responsiveness.	Kim WJ et al.	2009	Respiratory medicine
19284637	Polymorphisms in the ADRB2 gene and Graves disease: a case-control study and a meta-analysis of available evidence.	Chu X et al.	2009	BMC medical genetics
19850944	beta2-Adrenergic receptor gene polymorphism is associated with mortality in septic shock.	Nakada TA et al.	2010	American journal of respiratory and critical care medicine
20525719	Association of COPD candidate genes with computed tomography emphysema and airway phenotypes in severe COPD.	Kim WJ et al.	2011	The European respiratory journal
20537997	Genetic covariance between gamma-glutamyl transpeptidase and fatty liver risk factors: role of beta2-adrenergic receptor genetic variation in twins.	Loomba R et al.	2010	Gastroenterology
24012958	Single nucleotide polymorphisms of ADRB2 gene and their association with susceptibility for Plasmodium falciparum malaria and asthma in an Indian population.	Saadi AV et al.	2013	Infection, genetics and evolution
25050782	Effects of β2-adrenergic receptor gene polymorphisms on ritodrine therapy in pregnant women with preterm labor: prospective follow-up study.	Park JY et al.	2014	International journal of molecular sciences
26503814	A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease.	Hardin M et al.	2016	The pharmacogenomics journal
27247849	Genetic variation and cognitive dysfunction in opioid-treated patients with cancer.	Kurita GP et al.	2016	Brain and behavior
29132297	Association between ß2-adrenergic receptor gene polymorphisms and adverse events of ritodrine in the treatment of preterm labor: a prospective observational study.	Chung JE et al.	2017	BMC genetics
31790415	Genetic variability of five ADRB2 polymorphisms among Mexican Amerindian ethnicities and the Mestizo population.	Salas-Martínez MG et al.	2019	PloS one
33458655	Comparison of Beta-2 Adrenergic Receptor Gene Polymorphisms Between Patients with Fibromyalgia Syndrome and Healthy Controls.	Şen ÇakiroĞlu G et al.	2020	Archives of rheumatology

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
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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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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1042717