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.
rs1801252
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr10:114044277 (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
- A>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.174778 (46262/264690, TOPMED)G=0.154259 (25769/167050, GnomAD_exome)G=0.170279 (23835/139976, GnomAD) (+ 20 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- ADRB1 : Missense Variant
- Publications
- 50 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: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 75056 | A=0.86563 | G=0.13437 | 0.75 | 0.018733 | 0.231267 | 1 |
| European | Sub | 66742 | A=0.87046 | G=0.12954 | 0.757334 | 0.016421 | 0.226244 | 0 |
| African | Sub | 3596 | A=0.7973 | G=0.2027 | 0.640712 | 0.046162 | 0.313126 | 1 |
| African Others | Sub | 124 | A=0.742 | G=0.258 | 0.564516 | 0.080645 | 0.354839 | 0 |
| African American | Sub | 3472 | A=0.7993 | G=0.2007 | 0.643433 | 0.044931 | 0.311636 | 1 |
| Asian | Sub | 168 | A=0.881 | G=0.119 | 0.77381 | 0.011905 | 0.214286 | 0 |
| East Asian | Sub | 112 | A=0.875 | G=0.125 | 0.767857 | 0.017857 | 0.214286 | 0 |
| Other Asian | Sub | 56 | A=0.89 | G=0.11 | 0.785714 | 0.0 | 0.214286 | 0 |
| Latin American 1 | Sub | 146 | A=0.822 | G=0.178 | 0.684932 | 0.041096 | 0.273973 | 0 |
| Latin American 2 | Sub | 630 | A=0.754 | G=0.246 | 0.577778 | 0.069841 | 0.352381 | 0 |
| South Asian | Sub | 98 | A=0.90 | G=0.10 | 0.795918 | 0.0 | 0.204082 | 0 |
| Other | Sub | 3676 | A=0.8643 | G=0.1357 | 0.753536 | 0.025027 | 0.221436 | 4 |
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 | A=0.825222 | G=0.174778 |
| gnomAD - Exomes | Global | Study-wide | 167050 | A=0.845741 | G=0.154259 |
| gnomAD - Exomes | European | Sub | 87718 | A=0.87004 | G=0.12996 |
| gnomAD - Exomes | Asian | Sub | 35320 | A=0.86846 | G=0.13154 |
| gnomAD - Exomes | American | Sub | 23742 | A=0.71510 | G=0.28490 |
| gnomAD - Exomes | African | Sub | 8198 | A=0.7834 | G=0.2166 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 7876 | A=0.9222 | G=0.0778 |
| gnomAD - Exomes | Other | Sub | 4196 | A=0.8642 | G=0.1358 |
| gnomAD - Genomes | Global | Study-wide | 139976 | A=0.829721 | G=0.170279 |
| gnomAD - Genomes | European | Sub | 75784 | A=0.86422 | G=0.13578 |
| gnomAD - Genomes | African | Sub | 41958 | A=0.77361 | G=0.22639 |
| gnomAD - Genomes | American | Sub | 13636 | A=0.78505 | G=0.21495 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | A=0.9087 | G=0.0913 |
| gnomAD - Genomes | East Asian | Sub | 3130 | A=0.8530 | G=0.1470 |
| gnomAD - Genomes | Other | Sub | 2148 | A=0.8361 | G=0.1639 |
| Allele Frequency Aggregator | Total | Global | 75056 | A=0.86563 | G=0.13437 |
| Allele Frequency Aggregator | European | Sub | 66742 | A=0.87046 | G=0.12954 |
| Allele Frequency Aggregator | Other | Sub | 3676 | A=0.8643 | G=0.1357 |
| Allele Frequency Aggregator | African | Sub | 3596 | A=0.7973 | G=0.2027 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 630 | A=0.754 | G=0.246 |
| Allele Frequency Aggregator | Asian | Sub | 168 | A=0.881 | G=0.119 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | A=0.822 | G=0.178 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | A=0.90 | G=0.10 |
| ExAC | Global | Study-wide | 43402 | A=0.69600 | G=0.30400 |
| ExAC | Europe | Sub | 23588 | A=0.71316 | G=0.28684 |
| ExAC | Asian | Sub | 11008 | A=0.75781 | G=0.24219 |
| ExAC | American | Sub | 4884 | A=0.5143 | G=0.4857 |
| ExAC | African | Sub | 3620 | A=0.6376 | G=0.3624 |
| ExAC | Other | Sub | 302 | A=0.742 | G=0.258 |
| 14KJPN | JAPANESE | Study-wide | 28248 | A=0.85734 | G=0.14266 |
| 8.3KJPN | JAPANESE | Study-wide | 16752 | A=0.85423 | G=0.14577 |
| PharmGKB Aggregated | Global | Study-wide | 13912 | A=0.82763 | G=0.17237 |
| PharmGKB Aggregated | PA159620103 | Sub | 5248 | A=0.8234 | G=0.1766 |
| PharmGKB Aggregated | PA142820154 | Sub | 3724 | A=0.8099 | G=0.1901 |
| PharmGKB Aggregated | PA130767817 | Sub | 2082 | A=0.8353 | G=0.1647 |
| PharmGKB Aggregated | PA140543124 | Sub | 1370 | A=0.8474 | G=0.1526 |
| PharmGKB Aggregated | PA159024834 | Sub | 716 | A=0.851 | G=0.149 |
| PharmGKB Aggregated | PA129963454 | Sub | 460 | A=0.880 | G=0.120 |
| PharmGKB Aggregated | PA152252980 | Sub | 312 | A=0.843 | G=0.157 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.8192 | G=0.1808 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.7688 | G=0.2312 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.8673 | G=0.1327 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.8644 | G=0.1356 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.8564 | G=0.1436 |
| 1000Genomes_30x | American | Sub | 980 | A=0.749 | G=0.251 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.8223 | G=0.1777 |
| 1000Genomes | African | Sub | 1322 | A=0.7610 | G=0.2390 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.8591 | G=0.1409 |
| 1000Genomes | Europe | Sub | 1006 | A=0.8728 | G=0.1272 |
| 1000Genomes | South Asian | Sub | 978 | A=0.867 | G=0.133 |
| 1000Genomes | American | Sub | 694 | A=0.749 | G=0.251 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.8449 | G=0.1551 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.8586 | G=0.1414 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.8727 | G=0.1273 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2906 | A=0.8493 | G=0.1507 |
| Korean Genome Project | KOREAN | Study-wide | 1798 | A=0.8626 | G=0.1374 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 778 | A=0.856 | G=0.144 |
| CNV burdens in cranial meningiomas | CRM | Sub | 778 | A=0.856 | G=0.144 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.827 | G=0.173 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 547 | A=0.945 | G=0.055 |
| Qatari | Global | Study-wide | 216 | A=0.907 | G=0.093 |
| HapMap | Global | Study-wide | 206 | A=0.995 | G=0.005 |
| HapMap | African | Sub | 118 | A=0.992 | G=0.008 |
| HapMap | Asian | Sub | 88 | A=1.00 | G=0.00 |
| SGDP_PRJ | Global | Study-wide | 164 | A=0.409 | G=0.591 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.88 | G=0.12 |
| Siberian | Global | Study-wide | 24 | A=0.38 | G=0.62 |
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 10 | NC_000010.11:g.114044277A>G |
| GRCh37.p13 chr 10 | NC_000010.10:g.115804036A>G |
| ADRB1 RefSeqGene | NG_012187.1:g.5231A>G |
Gene: ADRB1, adrenoceptor beta 1
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ADRB1 transcript | NM_000684.3:c.145A>G | S [AGC] > G [GGC] | Coding Sequence Variant |
| beta-1 adrenergic receptor | NP_000675.1:p.Ser49Gly | S (Ser) > G (Gly) | Missense 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.
Allele: G (allele ID:
32786
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000019323.27 | Resting heart rate | Association |
| RCV000600843.1 | not specified | Likely-Benign |
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 | A= | G |
|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.114044277= | NC_000010.11:g.114044277A>G |
| GRCh37.p13 chr 10 | NC_000010.10:g.115804036= | NC_000010.10:g.115804036A>G |
| ADRB1 RefSeqGene | NG_012187.1:g.5231= | NG_012187.1:g.5231A>G |
| ADRB1 transcript | NM_000684.3:c.145= | NM_000684.3:c.145A>G |
| ADRB1 transcript | NM_000684.2:c.145= | NM_000684.2:c.145A>G |
| beta-1 adrenergic receptor | NP_000675.1:p.Ser49= | NP_000675.1:p.Ser49Gly |
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#.
95 SubSNP,
23 Frequency,
2 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | HGBASE | ss2421490 | Nov 14, 2000 (89) |
| 2 | YUSUKE | ss4926155 | Aug 28, 2002 (108) |
| 3 | SC_SNP | ss15884723 | Feb 27, 2004 (120) |
| 4 | PGA-UW-FHCRC | ss28525351 | Dec 02, 2004 (124) |
| 5 | SNP500CANCER | ss48292429 | Mar 13, 2006 (126) |
| 6 | RIKENSNPRC | ss49847786 | Mar 13, 2006 (126) |
| 7 | PHARMGKB_CREATE | ss69364289 | May 17, 2007 (127) |
| 8 | PHARMGKB_INVEST | ss69366433 | May 17, 2007 (127) |
| 9 | PHARMGKB_INVEST | ss69368125 | May 17, 2007 (127) |
| 10 | PHARMGKB_APP | ss69369185 | May 17, 2007 (127) |
| 11 | CANCER-GENOME | ss86347256 | Mar 23, 2008 (129) |
| 12 | PHARMGKB_PEAR | ss105108109 | Feb 05, 2009 (130) |
| 13 | PHARMGKB_INVEST | ss105110334 | Feb 05, 2009 (130) |
| 14 | PHARMGKB_INVEST | ss105110337 | Feb 05, 2009 (130) |
| 15 | SEATTLESEQ | ss159721475 | Dec 01, 2009 (131) |
| 16 | COMPLETE_GENOMICS | ss168752684 | Jul 04, 2010 (132) |
| 17 | 1000GENOMES | ss224953272 | Jul 14, 2010 (132) |
| 18 | 1000GENOMES | ss242016131 | Jul 15, 2010 (132) |
| 19 | OMICIA | ss244238805 | May 27, 2010 (132) |
| 20 | ILLUMINA | ss244285120 | Jul 04, 2010 (132) |
| 21 | OMIM-CURATED-RECORDS | ss263197784 | Nov 04, 2010 (133) |
| 22 | NHLBI-ESP | ss342308925 | May 09, 2011 (134) |
| 23 | 1000GENOMES | ss491005338 | May 04, 2012 (137) |
| 24 | EXOME_CHIP | ss491440879 | May 04, 2012 (137) |
| 25 | SSMP | ss657395470 | Apr 25, 2013 (138) |
| 26 | ILLUMINA | ss783577238 | Sep 08, 2015 (146) |
| 27 | EVA-GONL | ss987946939 | Aug 21, 2014 (142) |
| 28 | JMKIDD_LAB | ss1067516427 | Aug 21, 2014 (142) |
| 29 | JMKIDD_LAB | ss1077315612 | Aug 21, 2014 (142) |
| 30 | 1000GENOMES | ss1339164194 | Aug 21, 2014 (142) |
| 31 | DDI | ss1426451039 | Apr 01, 2015 (144) |
| 32 | EVA_GENOME_DK | ss1575368099 | Apr 01, 2015 (144) |
| 33 | EVA_UK10K_ALSPAC | ss1625491401 | Apr 01, 2015 (144) |
| 34 | EVA_UK10K_TWINSUK | ss1668485434 | Apr 01, 2015 (144) |
| 35 | EVA_EXAC | ss1690088524 | Apr 01, 2015 (144) |
| 36 | WEILL_CORNELL_DGM | ss1931306957 | Feb 12, 2016 (147) |
| 37 | ILLUMINA | ss1946293850 | Feb 12, 2016 (147) |
| 38 | ILLUMINA | ss1959296503 | Feb 12, 2016 (147) |
| 39 | JJLAB | ss2026386753 | Sep 14, 2016 (149) |
| 40 | PATHPUNJABI | ss2137543937 | Jul 13, 2019 (153) |
| 41 | USC_VALOUEV | ss2154664366 | Dec 20, 2016 (150) |
| 42 | HUMAN_LONGEVITY | ss2178282162 | Dec 20, 2016 (150) |
| 43 | SYSTEMSBIOZJU | ss2627660156 | Nov 08, 2017 (151) |
| 44 | GRF | ss2698922483 | Nov 08, 2017 (151) |
| 45 | GNOMAD | ss2738539723 | Nov 08, 2017 (151) |
| 46 | GNOMAD | ss2748475960 | Nov 08, 2017 (151) |
| 47 | GNOMAD | ss2893674460 | Nov 08, 2017 (151) |
| 48 | AFFY | ss2984924138 | Nov 08, 2017 (151) |
| 49 | AFFY | ss2985571622 | Nov 08, 2017 (151) |
| 50 | SWEGEN | ss3007188244 | Nov 08, 2017 (151) |
| 51 | ILLUMINA | ss3021277522 | Nov 08, 2017 (151) |
| 52 | BIOINF_KMB_FNS_UNIBA | ss3026982357 | Nov 08, 2017 (151) |
| 53 | CSHL | ss3349321821 | Nov 08, 2017 (151) |
| 54 | ILLUMINA | ss3634425172 | Oct 12, 2018 (152) |
| 55 | ILLUMINA | ss3640132513 | Oct 12, 2018 (152) |
| 56 | OMUKHERJEE_ADBS | ss3646415652 | Oct 12, 2018 (152) |
| 57 | ILLUMINA | ss3651636951 | Oct 12, 2018 (152) |
| 58 | ILLUMINA | ss3653695251 | Oct 12, 2018 (152) |
| 59 | EGCUT_WGS | ss3674604872 | Jul 13, 2019 (153) |
| 60 | EVA_DECODE | ss3690730771 | Jul 13, 2019 (153) |
| 61 | ACPOP | ss3737700347 | Jul 13, 2019 (153) |
| 62 | ILLUMINA | ss3744726125 | Jul 13, 2019 (153) |
| 63 | EVA | ss3748634832 | Jul 13, 2019 (153) |
| 64 | KHV_HUMAN_GENOMES | ss3813993192 | Jul 13, 2019 (153) |
| 65 | EVA | ss3824557181 | Apr 26, 2020 (154) |
| 66 | EVA | ss3825784330 | Apr 26, 2020 (154) |
| 67 | EVA | ss3832344876 | Apr 26, 2020 (154) |
| 68 | SGDP_PRJ | ss3875107200 | Apr 26, 2020 (154) |
| 69 | KRGDB | ss3923276048 | Apr 26, 2020 (154) |
| 70 | KOGIC | ss3968724634 | Apr 26, 2020 (154) |
| 71 | FSA-LAB | ss3983986905 | Apr 26, 2021 (155) |
| 72 | EVA | ss3984641246 | Apr 26, 2021 (155) |
| 73 | EVA | ss3986499616 | Apr 26, 2021 (155) |
| 74 | TOPMED | ss4867386117 | Apr 26, 2021 (155) |
| 75 | TOMMO_GENOMICS | ss5199588034 | Apr 26, 2021 (155) |
| 76 | EVA | ss5236887470 | Apr 26, 2021 (155) |
| 77 | EVA | ss5237484250 | Apr 26, 2021 (155) |
| 78 | EVA | ss5237656191 | Oct 13, 2022 (156) |
| 79 | 1000G_HIGH_COVERAGE | ss5285555344 | Oct 13, 2022 (156) |
| 80 | TRAN_CS_UWATERLOO | ss5314429941 | Oct 13, 2022 (156) |
| 81 | EVA | ss5396201013 | Oct 13, 2022 (156) |
| 82 | HUGCELL_USP | ss5480970400 | Oct 13, 2022 (156) |
| 83 | EVA | ss5510179262 | Oct 13, 2022 (156) |
| 84 | 1000G_HIGH_COVERAGE | ss5580278539 | Oct 13, 2022 (156) |
| 85 | EVA | ss5624013064 | Oct 13, 2022 (156) |
| 86 | SANFORD_IMAGENETICS | ss5650146907 | Oct 13, 2022 (156) |
| 87 | TOMMO_GENOMICS | ss5745990766 | Oct 13, 2022 (156) |
| 88 | EVA | ss5800062444 | Oct 13, 2022 (156) |
| 89 | YY_MCH | ss5811905553 | Oct 13, 2022 (156) |
| 90 | EVA | ss5824992863 | Oct 13, 2022 (156) |
| 91 | EVA | ss5847610872 | Oct 13, 2022 (156) |
| 92 | EVA | ss5848308480 | Oct 13, 2022 (156) |
| 93 | EVA | ss5880631010 | Oct 13, 2022 (156) |
| 94 | EVA | ss5941449703 | Oct 13, 2022 (156) |
| 95 | EVA | ss5981263192 | Oct 13, 2022 (156) |
| 96 | 1000Genomes | NC_000010.10 - 115804036 | Oct 12, 2018 (152) |
| 97 | 1000Genomes_30x | NC_000010.11 - 114044277 | Oct 13, 2022 (156) |
| 98 | The Avon Longitudinal Study of Parents and Children | NC_000010.10 - 115804036 | Oct 12, 2018 (152) |
| 99 | Genetic variation in the Estonian population | NC_000010.10 - 115804036 | Oct 12, 2018 (152) |
| 100 | ExAC | NC_000010.10 - 115804036 | Oct 12, 2018 (152) |
| 101 | The Danish reference pan genome | NC_000010.10 - 115804036 | Apr 26, 2020 (154) |
| 102 | gnomAD - Genomes | NC_000010.11 - 114044277 | Apr 26, 2021 (155) |
| 103 | gnomAD - Exomes | NC_000010.10 - 115804036 | Jul 13, 2019 (153) |
| 104 | HapMap | NC_000010.11 - 114044277 | Apr 26, 2020 (154) |
| 105 | KOREAN population from KRGDB | NC_000010.10 - 115804036 | Apr 26, 2020 (154) |
| 106 | Korean Genome Project | NC_000010.11 - 114044277 | Apr 26, 2020 (154) |
| 107 | Northern Sweden | NC_000010.10 - 115804036 | Jul 13, 2019 (153) |
| 108 | CNV burdens in cranial meningiomas | NC_000010.10 - 115804036 | Apr 26, 2021 (155) |
| 109 | PharmGKB Aggregated | NC_000010.11 - 114044277 | Apr 26, 2020 (154) |
| 110 | Qatari | NC_000010.10 - 115804036 | Apr 26, 2020 (154) |
| 111 | SGDP_PRJ | NC_000010.10 - 115804036 | Apr 26, 2020 (154) |
| 112 | Siberian | NC_000010.10 - 115804036 | Apr 26, 2020 (154) |
| 113 | 8.3KJPN | NC_000010.10 - 115804036 | Apr 26, 2021 (155) |
| 114 | 14KJPN | NC_000010.11 - 114044277 | Oct 13, 2022 (156) |
| 115 | TopMed | NC_000010.11 - 114044277 | Apr 26, 2021 (155) |
| 116 | UK 10K study - Twins | NC_000010.10 - 115804036 | Oct 12, 2018 (152) |
| 117 | A Vietnamese Genetic Variation Database | NC_000010.10 - 115804036 | Jul 13, 2019 (153) |
| 118 | ALFA | NC_000010.11 - 114044277 | Apr 26, 2021 (155) |
| 119 | ClinVar | RCV000019323.27 | Oct 12, 2018 (152) |
| 120 | ClinVar | RCV000600843.1 | Oct 12, 2018 (152) |
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) |
|---|---|
| rs3740152 | Oct 09, 2002 (108) |
| rs12720482 | Oct 08, 2004 (123) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss168752684 | NC_000010.9:115794025:A:G | NC_000010.11:114044276:A:G | (self) |
| 51614625, 28670234, 20343120, 323646, 2336667, 7743017, 30453442, 10985212, 190716, 13348887, 27124180, 7180720, 57557341, 28670234, 6360841, ss224953272, ss242016131, ss342308925, ss491005338, ss491440879, ss657395470, ss783577238, ss987946939, ss1067516427, ss1077315612, ss1339164194, ss1426451039, ss1575368099, ss1625491401, ss1668485434, ss1690088524, ss1931306957, ss1946293850, ss1959296503, ss2026386753, ss2154664366, ss2627660156, ss2698922483, ss2738539723, ss2748475960, ss2893674460, ss2984924138, ss2985571622, ss3007188244, ss3021277522, ss3349321821, ss3634425172, ss3640132513, ss3646415652, ss3651636951, ss3653695251, ss3674604872, ss3737700347, ss3744726125, ss3748634832, ss3824557181, ss3825784330, ss3832344876, ss3875107200, ss3923276048, ss3983986905, ss3984641246, ss3986499616, ss5199588034, ss5237484250, ss5396201013, ss5510179262, ss5624013064, ss5650146907, ss5800062444, ss5824992863, ss5847610872, ss5848308480, ss5941449703, ss5981263192 | NC_000010.10:115804035:A:G | NC_000010.11:114044276:A:G | (self) |
| RCV000019323.27, RCV000600843.1, 67804474, 364711207, 497712, 25102635, 1400, 79827870, 82931772, 3634582832, ss244238805, ss263197784, ss2137543937, ss2178282162, ss3026982357, ss3690730771, ss3813993192, ss3968724634, ss4867386117, ss5236887470, ss5237656191, ss5285555344, ss5314429941, ss5480970400, ss5580278539, ss5745990766, ss5811905553, ss5880631010 | NC_000010.11:114044276:A:G | NC_000010.11:114044276:A:G | (self) |
| ss15884723 | NT_030059.11:34552561:A:G | NC_000010.11:114044276:A:G | (self) |
| ss2421490, ss4926155, ss28525351, ss48292429, ss49847786, ss69364289, ss69366433, ss69368125, ss69369185, ss86347256, ss105108109, ss105110334, ss105110337, ss159721475, ss244285120 | NT_030059.13:66608499:A:G | NC_000010.11:114044276:A:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
50
citations for rs1801252
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 11854867 | A polymorphism in the beta1 adrenergic receptor is associated with resting heart rate. | Ranade K et al. | 2002 | American journal of human genetics |
| 16120061 | The functional significance of genetic variation within the beta-adrenoceptor. | Sandilands AJ et al. | 2005 | British journal of clinical pharmacology |
| 17512307 | Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations. | Lima JJ et al. | 2007 | Metabolism |
| 18534365 | Common beta-adrenergic receptor polymorphisms are not associated with risk of sudden cardiac death in patients with coronary artery disease. | Tseng ZH et al. | 2008 | Heart rhythm |
| 18615004 | beta-adrenergic receptor gene polymorphisms and beta-blocker treatment outcomes in hypertension. | Pacanowski MA et al. | 2008 | Clinical pharmacology and therapeutics |
| 18936436 | Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. | Chang MH et al. | 2009 | American journal of epidemiology |
| 19743955 | Polymorphisms of the beta1-adrenergic receptor gene are associated with essential hypertension in Chinese. | Peng Y et al. | 2009 | Clinical chemistry and laboratory medicine |
| 19842931 | GRK5 Gln41Leu polymorphism is not associated with sensitivity to beta(1)-adrenergic blockade in humans. | Kurnik D et al. | 2009 | Pharmacogenomics |
| 20008943 | Association of FKBP5 polymorphisms with suicidal events in the Treatment of Resistant Depression in Adolescents (TORDIA) study. | Brent D et al. | 2010 | The American journal of psychiatry |
| 20435227 | Clinical assessment incorporating a personal genome. | Ashley EA et al. | 2010 | Lancet (London, England) |
| 20521218 | Progress toward genetic tailoring of heart failure therapy. | Lillvis JH et al. | 2010 | Current opinion in molecular therapeutics |
| 20676228 | ||||
| 20850564 | R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. | Bartos DC et al. | 2011 | Heart rhythm |
| 20869266 | Single-nucleotide polymorphisms in the β-adrenergic receptor genes are associated with lung allograft utilization. | Sapru A et al. | 2011 | The Journal of heart and lung transplantation |
| 20981351 | Promoter Polymorphism of RGS2 Gene Is Associated with Change of Blood Pressure in Subjects with Antihypertensive Treatment: The Azelnidipine and Temocapril in Hypertensive Patients with Type 2 Diabetes Study. | Sugimoto K et al. | 2010 | International journal of hypertension |
| 21414566 | β2 adrenergic receptor polymorphisms and nocturnal blood pressure dipping status in the Wisconsin Sleep Cohort Study. | Vardeny O et al. | 2011 | Journal of the American Society of Hypertension |
| 21573230 | Clustering heart rate dynamics is associated with β-adrenergic receptor polymorphisms: analysis by information-based similarity index. | Yang AC et al. | 2011 | PloS one |
| 21807569 | β-1 and β-2 adrenergic receptor polymorphism and association with cardiovascular response to orthostatic screening. | Wittwer ED et al. | 2011 | Autonomic neuroscience |
| 22552919 | Bioinformatics and variability in drug response: a protein structural perspective. | Lahti JL et al. | 2012 | Journal of the Royal Society, Interface |
| 22683993 | A mutation-centric approach to identifying pharmacogenomic relations in text. | Rance B et al. | 2012 | Journal of biomedical informatics |
| 23300409 | Chapter 7: Pharmacogenomics. | Karczewski KJ et al. | 2012 | PLoS computational biology |
| 23820649 | Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. | Cooper DN et al. | 2013 | Human genetics |
| 23856471 | Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome. | Duchatelet S et al. | 2013 | Circulation. Cardiovascular genetics |
| 24332148 | Genetic variation in the β1-adrenergic receptor is associated with the risk of atrial fibrillation after cardiac surgery. | Jeff JM et al. | 2014 | American heart journal |
| 25266489 | Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China. | Zhang J et al. | 2014 | BMC genetics |
| 26091847 | Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China. | Wang L et al. | 2015 | BMC genetics |
| 26111150 | Association of the ADRB2 (rs2053044) polymorphism and angiotensin-converting enzyme-inhibitor blood pressure response in the African American Study of Kidney Disease and Hypertension. | Anthony EG et al. | 2015 | Pharmacogenetics and genomics |
| 26602751 | Association of β-Adrenergic Receptor Gene Polymorphisms With Acute Coronary Syndrome and Cardiovascular Risk Factors in an Arab Population. | El-Menyar A et al. | 2016 | Angiology |
| 26694722 | Correlation of ADRB1 rs1801253 Polymorphism with Analgesic Effect of Fentanyl After Cancer Surgeries. | Wei W et al. | 2015 | Medical science monitor |
| 27103841 | Personalized medicine and treatment approaches in hypertension: current perspectives. | Byrd JB et al. | 2016 | Integrated blood pressure control |
| 27108086 | Multiplex SNaPshot-a new simple and efficient CYP2D6 and ADRB1 genotyping method. | Ben S et al. | 2016 | Human genomics |
| 27233804 | Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. | Jin T et al. | 2016 | BMC genetics |
| 27669015 | Adrenergic Receptor Polymorphism and Maximal Exercise Capacity after Orthotopic Heart Transplantation. | Métrich M et al. | 2016 | PloS one |
| 28294847 | [Personalized Risk Assessment of Adverse Cardiovascular Events in Young Patients With Connective Tissue Dysplasia]. | Druk IV et al. | 2015 | Kardiologiia |
| 29039833 | [Genetic determinants of hypertension in two national cohorts of Mountain Shoria]. | Barbarash ОL et al. | 2017 | Terapevticheskii arkhiv |
| 30295198 | [Left Ventricular Myocardial Hypertrophy as a Result of Arterial Hypertension Among Mountain Shoria Population. The Role of Genetic Polymorphism]. | Barbarash OL et al. | 2018 | Kardiologiia |
| 30668166 | β(2)-Adrenergic Receptor Gene Polymorphisms Are Associated with Cardiovascular Events But not All-Cause Mortality in Coronary Artery Disease Patients: A Meta-Analysis of Prospective Studies. | Li Y et al. | 2019 | Genetic testing and molecular biomarkers |
| 30753253 | β1-Adrenoreceptor Polymorphisms and Blood Pressure: 49S Variant Increases Plasma Renin But Not Blood Pressure in Hypertensive Patients. | Sandilands AJ et al. | 2019 | American journal of hypertension |
| 30756358 | Association of Genetic Polymorphisms in the Beta-1 Adrenergic Receptor with Recovery of Left Ventricular Ejection Fraction in Patients with Heart Failure. | Luzum JA et al. | 2019 | Journal of cardiovascular translational research |
| 31056593 | POLYMORPHISMS IN β-ADRENERGIC RECEPTORS ARE ASSOCIATED WITH INCREASED RISK TO HAVE A POSITIVE HEAD-UP TILT TABLE TEST IN PATIENTS WITH VASOVAGAL SYNCOPE. | Márquez MF et al. | 2019 | Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion |
| 31090375 | Interrelation of cardiovascular risk factors with high albuminury among patients with arterial hypertension living in Mountain Shoriya. | Mulerova ТА et al. | 2019 | Terapevticheskii arkhiv |
| 32293282 | Genetic forms and pathophysiology of essential arterial hypertension in minor indigenous peoples of Russia. | Mulerova T et al. | 2020 | BMC cardiovascular disorders |
| 32586526 | Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome. | Van Driest SL et al. | 2020 | The Journal of pediatrics |
| 33688237 | Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype. | Fonseca DJ et al. | 2021 | Pharmacogenomics and personalized medicine |
| 34638656 | Towards Understanding the Genetic Nature of Vasovagal Syncope. | Matveeva N et al. | 2021 | International journal of molecular sciences |
| 34713976 | β1-receptor polymorphisms and junctional ectopic tachycardia in children after cardiac surgery. | Dumeny L et al. | 2022 | Clinical and translational science |
| 35099251 | Beta-adrenergic receptors gene polymorphisms are associated with cardiac contractility and blood pressure variability. | Matuskova L et al. | 2021 | Physiological research |
| 35199539 | Adrenergic receptors gene polymorphisms and autonomic nervous control of heart and vascular tone. | Matušková L et al. | 2021 | Physiological research |
| 35258481 | Genetic biomarkers of life-threatening pheochromocytoma-induced cardiomyopathy. | Amar J et al. | 2022 | Endocrine-related cancer |
| 35308505 | Vitamin D Supplementation and Genetic Polymorphisms Impact on Weight Loss Diet Outcomes in Caucasians: A Randomized Double-Blind Placebo-Controlled Clinical Study. | Xenos K et al. | 2022 | Frontiers in medicine |
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
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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.
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.