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.
rs11045819
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr12:21176879 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.121486 (32156/264690, TOPMED)A=0.146491 (33538/228942, ALFA)A=0.123871 (17333/139928, GnomAD) (+ 22 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- SLCO1B1 : Missense Variant
- Publications
- 30 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 | 245160 | C=0.854507 | A=0.145493, T=0.000000 | 0.732575 | 0.02356 | 0.243865 | 24 |
| European | Sub | 202812 | C=0.841735 | A=0.158265, T=0.000000 | 0.709465 | 0.025995 | 0.264541 | 3 |
| African | Sub | 12660 | C=0.93499 | A=0.06501, T=0.00000 | 0.876145 | 0.006161 | 0.117694 | 4 |
| African Others | Sub | 440 | C=0.968 | A=0.032, T=0.000 | 0.940909 | 0.004545 | 0.054545 | 2 |
| African American | Sub | 12220 | C=0.93380 | A=0.06620, T=0.00000 | 0.873813 | 0.006219 | 0.119967 | 3 |
| Asian | Sub | 6442 | C=0.9991 | A=0.0009, T=0.0000 | 0.998137 | 0.0 | 0.001863 | 0 |
| East Asian | Sub | 4562 | C=0.9991 | A=0.0009, T=0.0000 | 0.998246 | 0.0 | 0.001754 | 0 |
| Other Asian | Sub | 1880 | C=0.9989 | A=0.0011, T=0.0000 | 0.997872 | 0.0 | 0.002128 | 0 |
| Latin American 1 | Sub | 920 | C=0.889 | A=0.111, T=0.000 | 0.78913 | 0.01087 | 0.2 | 0 |
| Latin American 2 | Sub | 3030 | C=0.9343 | A=0.0657, T=0.0000 | 0.873927 | 0.005281 | 0.120792 | 0 |
| South Asian | Sub | 288 | C=0.955 | A=0.045, T=0.000 | 0.916667 | 0.006944 | 0.076389 | 1 |
| Other | Sub | 19008 | C=0.87226 | A=0.12774, T=0.00000 | 0.765467 | 0.020939 | 0.213594 | 9 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | C=0.878514 | A=0.121486 |
| Allele Frequency Aggregator | Total | Global | 228942 | C=0.853509 | A=0.146491, T=0.000000 |
| Allele Frequency Aggregator | European | Sub | 192822 | C=0.841559 | A=0.158441, T=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 17576 | C=0.87443 | A=0.12557, T=0.00000 |
| Allele Frequency Aggregator | African | Sub | 7864 | C=0.9415 | A=0.0585, T=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 6442 | C=0.9991 | A=0.0009, T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 3030 | C=0.9343 | A=0.0657, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 920 | C=0.889 | A=0.111, T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 288 | C=0.955 | A=0.045, T=0.000 |
| gnomAD - Genomes | Global | Study-wide | 139928 | C=0.876129 | A=0.123871 |
| gnomAD - Genomes | European | Sub | 75766 | C=0.84546 | A=0.15454 |
| gnomAD - Genomes | African | Sub | 41940 | C=0.92110 | A=0.07890 |
| gnomAD - Genomes | American | Sub | 13622 | C=0.89921 | A=0.10079 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=0.7881 | A=0.2119 |
| gnomAD - Genomes | East Asian | Sub | 3126 | C=0.9987 | A=0.0013 |
| gnomAD - Genomes | Other | Sub | 2152 | C=0.8913 | A=0.1087 |
| ExAC | Global | Study-wide | 120816 | C=0.883368 | A=0.116632 |
| ExAC | Europe | Sub | 73058 | C=0.83937 | A=0.16063 |
| ExAC | Asian | Sub | 25132 | C=0.97095 | A=0.02905 |
| ExAC | American | Sub | 11502 | C=0.93784 | A=0.06216 |
| ExAC | African | Sub | 10226 | C=0.92020 | A=0.07980 |
| ExAC | Other | Sub | 898 | C=0.894 | A=0.106 |
| The PAGE Study | Global | Study-wide | 78698 | C=0.92025 | A=0.07975 |
| The PAGE Study | AfricanAmerican | Sub | 32514 | C=0.91610 | A=0.08390 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.92303 | A=0.07697 |
| The PAGE Study | Asian | Sub | 8316 | C=0.9986 | A=0.0014 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=0.8836 | A=0.1164 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.9513 | A=0.0487 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.8624 | A=0.1376 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.8851 | A=0.1149 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.9261 | A=0.0739 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.9051 | A=0.0949 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.8944 | A=0.1056 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.957 | A=0.043 |
| GO Exome Sequencing Project | Global | Study-wide | 12980 | C=0.86456 | A=0.13544 |
| GO Exome Sequencing Project | European American | Sub | 8574 | C=0.8392 | A=0.1608 |
| GO Exome Sequencing Project | African American | Sub | 4406 | C=0.9140 | A=0.0860 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.9313 | A=0.0687 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9362 | A=0.0638 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.8499 | A=0.1501 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.9700 | A=0.0300 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.9974 | A=0.0026 |
| 1000Genomes_30x | American | Sub | 980 | C=0.901 | A=0.099 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.9351 | A=0.0649 |
| 1000Genomes | African | Sub | 1322 | C=0.9402 | A=0.0598 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.9970 | A=0.0030 |
| 1000Genomes | Europe | Sub | 1006 | C=0.8559 | A=0.1441 |
| 1000Genomes | South Asian | Sub | 978 | C=0.970 | A=0.030 |
| 1000Genomes | American | Sub | 694 | C=0.901 | A=0.099 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.9051 | A=0.0949 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.8420 | A=0.1580 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.8309 | A=0.1691 |
| MxGDAR/Encodat-PGx | Global | Study-wide | 3256 | C=0.9401 | A=0.0599 |
| MxGDAR/Encodat-PGx | MxGDAR | Sub | 3256 | C=0.9401 | A=0.0599 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | C=0.9997 | A=0.0003 |
| HapMap | Global | Study-wide | 1552 | C=0.9253 | A=0.0747 |
| HapMap | African | Sub | 692 | C=0.964 | A=0.036 |
| HapMap | American | Sub | 596 | C=0.886 | A=0.114 |
| HapMap | Europe | Sub | 174 | C=0.868 | A=0.132 |
| HapMap | Asian | Sub | 90 | C=1.00 | A=0.00 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1134 | C=0.9030 | A=0.0970 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | C=0.906 | A=0.094 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | C=0.903 | A=0.097 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | C=0.934 | A=0.066 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 106 | C=0.811 | A=0.189 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | C=0.97 | A=0.03 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=0.83 | A=0.17 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.816 | A=0.184 |
| Chileans | Chilean | Study-wide | 626 | C=0.919 | A=0.081 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.857 | A=0.143 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.858 | A=0.142 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.934 | A=0.066 |
| Qatari | Global | Study-wide | 216 | C=0.940 | A=0.060 |
| PharmGKB Aggregated | Global | Study-wide | 88 | C=0.85 | A=0.15 |
| PharmGKB Aggregated | PA142898898 | Sub | 88 | C=0.85 | A=0.15 |
| SGDP_PRJ | Global | Study-wide | 50 | C=0.48 | A=0.52 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.90 | A=0.10 |
| Siberian | Global | Study-wide | 8 | C=0.4 | A=0.6 |
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 12 | NC_000012.12:g.21176879C>A |
| GRCh38.p14 chr 12 | NC_000012.12:g.21176879C>T |
| GRCh37.p13 chr 12 | NC_000012.11:g.21329813C>A |
| GRCh37.p13 chr 12 | NC_000012.11:g.21329813C>T |
| SLCO1B1 RefSeqGene (LRG_1022) | NG_011745.1:g.50686C>A |
| SLCO1B1 RefSeqGene (LRG_1022) | NG_011745.1:g.50686C>T |
Gene: SLCO1B1, solute carrier organic anion transporter family member 1B1
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| SLCO1B1 transcript | NM_006446.5:c.463C>A | P [CCT] > T [ACT] | Coding Sequence Variant |
| solute carrier organic anion transporter family member 1B1 | NP_006437.3:p.Pro155Thr | P (Pro) > T (Thr) | Missense Variant |
| SLCO1B1 transcript | NM_006446.5:c.463C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
| solute carrier organic anion transporter family member 1B1 | NP_006437.3:p.Pro155Ser | P (Pro) > S (Ser) | 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: A (allele ID:
324092
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000364840.13 | Rotor syndrome | Benign |
| RCV001706464.2 | not specified | 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 | C= | A | T |
|---|---|---|---|
| GRCh38.p14 chr 12 | NC_000012.12:g.21176879= | NC_000012.12:g.21176879C>A | NC_000012.12:g.21176879C>T |
| GRCh37.p13 chr 12 | NC_000012.11:g.21329813= | NC_000012.11:g.21329813C>A | NC_000012.11:g.21329813C>T |
| SLCO1B1 RefSeqGene (LRG_1022) | NG_011745.1:g.50686= | NG_011745.1:g.50686C>A | NG_011745.1:g.50686C>T |
| SLCO1B1 transcript | NM_006446.5:c.463= | NM_006446.5:c.463C>A | NM_006446.5:c.463C>T |
| SLCO1B1 transcript | NM_006446.4:c.463= | NM_006446.4:c.463C>A | NM_006446.4:c.463C>T |
| solute carrier organic anion transporter family member 1B1 | NP_006437.3:p.Pro155= | NP_006437.3:p.Pro155Thr | NP_006437.3:p.Pro155Ser |
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#.
112 SubSNP,
27 Frequency,
2 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SC_SNP | ss15510704 | Feb 27, 2004 (120) |
| 2 | SC_SNP | ss18962424 | Feb 27, 2004 (120) |
| 3 | PERLEGEN | ss24436893 | Sep 20, 2004 (123) |
| 4 | AFFY | ss66243318 | Dec 01, 2006 (127) |
| 5 | PERLEGEN | ss69103280 | May 18, 2007 (127) |
| 6 | PHARMGKB_PAAR-SJCRH | ss69368415 | May 18, 2007 (127) |
| 7 | AFFY | ss76389101 | Dec 06, 2007 (129) |
| 8 | KRIBB_YJKIM | ss82836258 | Dec 15, 2007 (130) |
| 9 | HUMANGENOME_JCVI | ss97292836 | Feb 04, 2009 (130) |
| 10 | CNG | ss98335765 | Feb 04, 2009 (130) |
| 11 | ILLUMINA-UK | ss118629317 | Feb 14, 2009 (130) |
| 12 | PMT | ss120239923 | Dec 01, 2009 (131) |
| 13 | ENSEMBL | ss139820661 | Dec 01, 2009 (131) |
| 14 | SEATTLESEQ | ss159725854 | Dec 01, 2009 (131) |
| 15 | COMPLETE_GENOMICS | ss170546303 | Jul 04, 2010 (132) |
| 16 | AFFY | ss173449978 | Jul 04, 2010 (132) |
| 17 | BUSHMAN | ss203633005 | Jul 04, 2010 (132) |
| 18 | 1000GENOMES | ss225644845 | Jul 14, 2010 (132) |
| 19 | 1000GENOMES | ss235854349 | Jul 15, 2010 (132) |
| 20 | GMI | ss286521388 | Apr 25, 2013 (138) |
| 21 | PJP | ss291397129 | May 09, 2011 (134) |
| 22 | NHLBI-ESP | ss342351442 | May 09, 2011 (134) |
| 23 | 1000GENOMES | ss491038267 | May 04, 2012 (137) |
| 24 | EXOME_CHIP | ss491465334 | May 04, 2012 (137) |
| 25 | CLINSEQ_SNP | ss491661693 | May 04, 2012 (137) |
| 26 | ILLUMINA | ss780908754 | Sep 08, 2015 (146) |
| 27 | ILLUMINA | ss783596226 | Sep 08, 2015 (146) |
| 28 | JMKIDD_LAB | ss974482889 | Aug 21, 2014 (142) |
| 29 | EVA-GONL | ss989317037 | Aug 21, 2014 (142) |
| 30 | JMKIDD_LAB | ss1067532206 | Aug 21, 2014 (142) |
| 31 | JMKIDD_LAB | ss1078305415 | Aug 21, 2014 (142) |
| 32 | 1000GENOMES | ss1344205393 | Aug 21, 2014 (142) |
| 33 | HAMMER_LAB | ss1397628255 | Sep 08, 2015 (146) |
| 34 | EVA_GENOME_DK | ss1576155893 | Apr 01, 2015 (144) |
| 35 | EVA_FINRISK | ss1584080711 | Apr 01, 2015 (144) |
| 36 | EVA_DECODE | ss1598989755 | Apr 01, 2015 (144) |
| 37 | EVA_UK10K_ALSPAC | ss1628166959 | Apr 01, 2015 (144) |
| 38 | EVA_UK10K_TWINSUK | ss1671160992 | Apr 01, 2015 (144) |
| 39 | EVA_EXAC | ss1690819637 | Apr 01, 2015 (144) |
| 40 | EVA_MGP | ss1711323287 | Apr 01, 2015 (144) |
| 41 | EVA_SVP | ss1713312649 | Apr 01, 2015 (144) |
| 42 | ILLUMINA | ss1752059974 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss1917871585 | Feb 12, 2016 (147) |
| 44 | WEILL_CORNELL_DGM | ss1932681508 | Feb 12, 2016 (147) |
| 45 | ILLUMINA | ss1946333528 | Feb 12, 2016 (147) |
| 46 | ILLUMINA | ss1959419466 | Feb 12, 2016 (147) |
| 47 | GENOMED | ss1967542575 | Jul 19, 2016 (147) |
| 48 | JJLAB | ss2027088109 | Sep 14, 2016 (149) |
| 49 | ILLUMINA | ss2095032090 | Dec 20, 2016 (150) |
| 50 | USC_VALOUEV | ss2155413861 | Dec 20, 2016 (150) |
| 51 | HUMAN_LONGEVITY | ss2188375163 | Dec 20, 2016 (150) |
| 52 | ILLUMINA | ss2632934599 | Nov 08, 2017 (151) |
| 53 | ILLUMINA | ss2710756085 | Nov 08, 2017 (151) |
| 54 | GNOMAD | ss2739675632 | Nov 08, 2017 (151) |
| 55 | GNOMAD | ss2748826220 | Nov 08, 2017 (151) |
| 56 | GNOMAD | ss2908174493 | Nov 08, 2017 (151) |
| 57 | AFFY | ss2984969933 | Nov 08, 2017 (151) |
| 58 | AFFY | ss2985612467 | Nov 08, 2017 (151) |
| 59 | SWEGEN | ss3009330229 | Nov 08, 2017 (151) |
| 60 | ILLUMINA | ss3021413009 | Nov 08, 2017 (151) |
| 61 | BIOINF_KMB_FNS_UNIBA | ss3027350322 | Nov 08, 2017 (151) |
| 62 | CSIRBIOHTS | ss3029638259 | Nov 08, 2017 (151) |
| 63 | CSHL | ss3349960641 | Nov 08, 2017 (151) |
| 64 | ILLUMINA | ss3626833358 | Oct 12, 2018 (152) |
| 65 | ILLUMINA | ss3634494918 | Oct 12, 2018 (152) |
| 66 | ILLUMINA | ss3640202251 | Oct 12, 2018 (152) |
| 67 | ILLUMINA | ss3644586488 | Oct 12, 2018 (152) |
| 68 | OMUKHERJEE_ADBS | ss3646439196 | Oct 12, 2018 (152) |
| 69 | URBANLAB | ss3649786497 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3651787129 | Oct 12, 2018 (152) |
| 71 | ILLUMINA | ss3651787130 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3653742479 | Oct 12, 2018 (152) |
| 73 | EGCUT_WGS | ss3676645999 | Jul 13, 2019 (153) |
| 74 | EVA_DECODE | ss3693259735 | Jul 13, 2019 (153) |
| 75 | ILLUMINA | ss3725309278 | Jul 13, 2019 (153) |
| 76 | ACPOP | ss3738837089 | Jul 13, 2019 (153) |
| 77 | ILLUMINA | ss3744392907 | Jul 13, 2019 (153) |
| 78 | ILLUMINA | ss3744795631 | Jul 13, 2019 (153) |
| 79 | EVA | ss3750230589 | Jul 13, 2019 (153) |
| 80 | PAGE_CC | ss3771679146 | Jul 13, 2019 (153) |
| 81 | ILLUMINA | ss3772295155 | Jul 13, 2019 (153) |
| 82 | KHV_HUMAN_GENOMES | ss3815548196 | Jul 13, 2019 (153) |
| 83 | EVA | ss3824711160 | Apr 26, 2020 (154) |
| 84 | EVA | ss3825817688 | Apr 26, 2020 (154) |
| 85 | EVA | ss3833014591 | Apr 26, 2020 (154) |
| 86 | SGDP_PRJ | ss3877844635 | Apr 26, 2020 (154) |
| 87 | KRGDB | ss3926377258 | Apr 26, 2020 (154) |
| 88 | FSA-LAB | ss3984023421 | Apr 26, 2021 (155) |
| 89 | EVA | ss3984449716 | Apr 26, 2021 (155) |
| 90 | EVA | ss3986562204 | Apr 26, 2021 (155) |
| 91 | TOPMED | ss4911206335 | Apr 26, 2021 (155) |
| 92 | EVA | ss5237219029 | Apr 26, 2021 (155) |
| 93 | EVA | ss5237508213 | Apr 26, 2021 (155) |
| 94 | EVA | ss5237659607 | Oct 13, 2022 (156) |
| 95 | 1000G_HIGH_COVERAGE | ss5290064486 | Oct 13, 2022 (156) |
| 96 | TRAN_CS_UWATERLOO | ss5314434915 | Oct 13, 2022 (156) |
| 97 | HUGCELL_USP | ss5484924546 | Oct 13, 2022 (156) |
| 98 | EVA | ss5510619766 | Oct 13, 2022 (156) |
| 99 | EVA | ss5512473922 | Oct 13, 2022 (156) |
| 100 | 1000G_HIGH_COVERAGE | ss5587120832 | Oct 13, 2022 (156) |
| 101 | SANFORD_IMAGENETICS | ss5624296722 | Oct 13, 2022 (156) |
| 102 | SANFORD_IMAGENETICS | ss5652739654 | Oct 13, 2022 (156) |
| 103 | EVA | ss5800064724 | Oct 13, 2022 (156) |
| 104 | EVA | ss5800175371 | Oct 13, 2022 (156) |
| 105 | EVA | ss5837690626 | Oct 13, 2022 (156) |
| 106 | EVA | ss5847405672 | Oct 13, 2022 (156) |
| 107 | EVA | ss5847662852 | Oct 13, 2022 (156) |
| 108 | EVA | ss5848347705 | Oct 13, 2022 (156) |
| 109 | EVA | ss5903573690 | Oct 13, 2022 (156) |
| 110 | EVA | ss5944090223 | Oct 13, 2022 (156) |
| 111 | EVA | ss5979385026 | Oct 13, 2022 (156) |
| 112 | EVA | ss5980726511 | Oct 13, 2022 (156) |
| 113 | 1000Genomes | NC_000012.11 - 21329813 | Oct 12, 2018 (152) |
| 114 | 1000Genomes_30x | NC_000012.12 - 21176879 | Oct 13, 2022 (156) |
| 115 | The Avon Longitudinal Study of Parents and Children | NC_000012.11 - 21329813 | Oct 12, 2018 (152) |
| 116 | Chileans | NC_000012.11 - 21329813 | Apr 26, 2020 (154) |
| 117 | Genome-wide autozygosity in Daghestan | NC_000012.10 - 21221080 | Apr 26, 2020 (154) |
| 118 | Genetic variation in the Estonian population | NC_000012.11 - 21329813 | Oct 12, 2018 (152) |
| 119 | ExAC | NC_000012.11 - 21329813 | Oct 12, 2018 (152) |
| 120 | FINRISK | NC_000012.11 - 21329813 | Apr 26, 2020 (154) |
| 121 | The Danish reference pan genome | NC_000012.11 - 21329813 | Apr 26, 2020 (154) |
| 122 | gnomAD - Genomes | NC_000012.12 - 21176879 | Apr 26, 2021 (155) |
| 123 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 124 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 125 | GO Exome Sequencing Project | NC_000012.11 - 21329813 | Oct 12, 2018 (152) |
| 126 | Genome of the Netherlands Release 5 | NC_000012.11 - 21329813 | Apr 26, 2020 (154) |
| 127 | HapMap | NC_000012.12 - 21176879 | Apr 26, 2020 (154) |
| 128 | KOREAN population from KRGDB | NC_000012.11 - 21329813 | Apr 26, 2020 (154) |
| 129 | Medical Genome Project healthy controls from Spanish population | NC_000012.11 - 21329813 | Apr 26, 2020 (154) |
| 130 | Northern Sweden | NC_000012.11 - 21329813 | Jul 13, 2019 (153) |
| 131 | The PAGE Study | NC_000012.12 - 21176879 | Jul 13, 2019 (153) |
| 132 | MxGDAR/Encodat-PGx | NC_000012.11 - 21329813 | Apr 26, 2021 (155) |
| 133 | PharmGKB Aggregated | NC_000012.12 - 21176879 | Apr 26, 2020 (154) |
| 134 | Qatari | NC_000012.11 - 21329813 | Apr 26, 2020 (154) |
| 135 | SGDP_PRJ | NC_000012.11 - 21329813 | Apr 26, 2020 (154) |
| 136 | Siberian | NC_000012.11 - 21329813 | Apr 26, 2020 (154) |
| 137 | TopMed | NC_000012.12 - 21176879 | Apr 26, 2021 (155) |
| 138 | UK 10K study - Twins | NC_000012.11 - 21329813 | Oct 12, 2018 (152) |
| 139 | ALFA | NC_000012.12 - 21176879 | Apr 26, 2021 (155) |
| 140 | ClinVar | RCV000364840.13 | Oct 13, 2022 (156) |
| 141 | ClinVar | RCV001706464.2 | Oct 13, 2022 (156) |
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) |
|---|---|
| rs17389312 | Oct 08, 2004 (123) |
| rs60034088 | Feb 26, 2009 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 99230, ss66243318, ss76389101, ss118629317, ss170546303, ss173449978, ss203633005, ss286521388, ss291397129, ss491661693, ss1397628255, ss1598989755, ss1713312649 | NC_000012.10:21221079:C:A | NC_000012.12:21176878:C:A | (self) |
| 56923990, 31607567, 94340, 22384247, 1109578, 77172, 2875600, 1168645, 14103382, 33554652, 439047, 12121954, 2717, 14723438, 29861615, 7930215, 31607567, ss225644845, ss235854349, ss342351442, ss491038267, ss491465334, ss780908754, ss783596226, ss974482889, ss989317037, ss1067532206, ss1078305415, ss1344205393, ss1576155893, ss1584080711, ss1628166959, ss1671160992, ss1690819637, ss1711323287, ss1752059974, ss1917871585, ss1932681508, ss1946333528, ss1959419466, ss1967542575, ss2027088109, ss2095032090, ss2155413861, ss2632934599, ss2710756085, ss2739675632, ss2748826220, ss2908174493, ss2984969933, ss2985612467, ss3009330229, ss3021413009, ss3029638259, ss3349960641, ss3626833358, ss3634494918, ss3640202251, ss3644586488, ss3646439196, ss3651787129, ss3651787130, ss3653742479, ss3676645999, ss3738837089, ss3744392907, ss3744795631, ss3750230589, ss3772295155, ss3824711160, ss3825817688, ss3833014591, ss3877844635, ss3926377258, ss3984023421, ss3984449716, ss3986562204, ss5237508213, ss5510619766, ss5512473922, ss5624296722, ss5652739654, ss5800064724, ss5800175371, ss5837690626, ss5847405672, ss5847662852, ss5848347705, ss5944090223, ss5979385026, ss5980726511 | NC_000012.11:21329812:C:A | NC_000012.12:21176878:C:A | (self) |
| RCV000364840.13, RCV001706464.2, 74646767, 401379545, 771113, 900615, 2675, 126751992, 3424572721, ss2188375163, ss3027350322, ss3649786497, ss3693259735, ss3725309278, ss3771679146, ss3815548196, ss4911206335, ss5237219029, ss5237659607, ss5290064486, ss5314434915, ss5484924546, ss5587120832, ss5903573690 | NC_000012.12:21176878:C:A | NC_000012.12:21176878:C:A | (self) |
| ss15510704, ss18962424 | NT_009714.16:14088786:C:A | NC_000012.12:21176878:C:A | (self) |
| ss24436893, ss69103280, ss69368415, ss82836258, ss97292836, ss98335765, ss120239923, ss139820661, ss159725854 | NT_009714.17:14089936:C:A | NC_000012.12:21176878:C:A | (self) |
| ss2739675632 | NC_000012.11:21329812:C:T | NC_000012.12:21176878:C:T | (self) |
| 3424572721 | NC_000012.12:21176878:C:T | NC_000012.12:21176878: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.
30
citations for rs11045819
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 18781850 | Association between a frequent allele of the gene encoding OATP1B1 and enhanced LDL-lowering response to fluvastatin therapy. | Couvert P et al. | 2008 | Pharmacogenomics |
| 20078617 | The impact of SLCO1B1 polymorphisms on the plasma concentration of lopinavir and ritonavir in HIV-infected men. | Kohlrausch FB et al. | 2010 | British journal of clinical pharmacology |
| 20139798 | ADME pharmacogenetics: investigation of the pharmacokinetics of the antiretroviral agent lopinavir coformulated with ritonavir. | Lubomirov R et al. | 2010 | Pharmacogenetics and genomics |
| 20435227 | Clinical assessment incorporating a personal genome. | Ashley EA et al. | 2010 | Lancet (London, England) |
| 20973885 | Organic anion transporter 1B1 (SLCO1B1) polymorphism and gallstone formation: High incidence of Exon4 CA genotype in female patients in North India. | Srivastava A et al. | 2011 | Hepatology research |
| 21072184 | Flavopiridol pharmacogenetics: clinical and functional evidence for the role of SLCO1B1/OATP1B1 in flavopiridol disposition. | Ni W et al. | 2010 | PloS one |
| 21288825 | Association of pharmacogenetic markers with premature discontinuation of first-line anti-HIV therapy: an observational cohort study. | Lubomirov R et al. | 2011 | The Journal of infectious diseases |
| 21573225 | Genetic background of patients from a university medical center in Manhattan: implications for personalized medicine. | Tayo BO et al. | 2011 | PloS one |
| 21709081 | The SLCO1B1 rs4149032 polymorphism is highly prevalent in South Africans and is associated with reduced rifampin concentrations: dosing implications. | Chigutsa E et al. | 2011 | Antimicrobial agents and chemotherapy |
| 22016628 | Pharmacogenetics of OATP transporters reveals that SLCO1B1 c.388A>G variant is determinant of increased atorvastatin response. | Rodrigues AC et al. | 2011 | International journal of molecular sciences |
| 22136368 | Influence of genomic ancestry on the distribution of SLCO1B1, SLCO1B3 and ABCB1 gene polymorphisms among Brazilians. | Sortica Vde A et al. | 2012 | Basic & clinical pharmacology & toxicology |
| 22275900 | Pharmacogenomics: what is next? | di Iulio J et al. | 2011 | Frontiers in pharmacology |
| 22552919 | Bioinformatics and variability in drug response: a protein structural perspective. | Lahti JL et al. | 2012 | Journal of the Royal Society, Interface |
| 23100282 | Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study. | Hopewell JC et al. | 2013 | European heart journal |
| 23133420 | Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin. | Suarez-Kurtz G et al. | 2012 | Frontiers in pharmacology |
| 23503447 | Discordant associations between SLCO1B1 521T→C and plasma levels of ritonavir-boosted protease inhibitors in AIDS clinical trials group study A5146. | Zhang X et al. | 2013 | Therapeutic drug monitoring |
| 23940529 | Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis. | Lautner-Csorba O et al. | 2013 | PloS one |
| 24122874 | Interindividual variability in hepatic organic anion-transporting polypeptides and P-glycoprotein (ABCB1) protein expression: quantification by liquid chromatography tandem mass spectroscopy and influence of genotype, age, and sex. | Prasad B et al. | 2014 | Drug metabolism and disposition |
| 24909419 | A 30-years review on pharmacokinetics of antibiotics: is the right time for pharmacogenetics? | Baietto L et al. | 2014 | Current drug metabolism |
| 26482301 | Effect of SLCO1B1 Polymorphisms on Rifabutin Pharmacokinetics in African HIV-Infected Patients with Tuberculosis. | Hennig S et al. | 2016 | Antimicrobial agents and chemotherapy |
| 26744986 | Mixed effects of OATP1B1, BCRP and NTCP polymorphisms on the population pharmacokinetics of pravastatin in healthy volunteers. | Lu XF et al. | 2016 | Xenobiotica; the fate of foreign compounds in biological systems |
| 27398328 | Hyperbilirubinemia in Neonates: Types, Causes, Clinical Examinations, Preventive Measures and Treatments: A Narrative Review Article. | Ullah S et al. | 2016 | Iranian journal of public health |
| 27510251 | SLCO1B1 gene polymorphisms do not influence plasma rifampicin concentrations in a South Indian population. | Ramesh K et al. | 2016 | The international journal of tuberculosis and lung disease |
| 31250727 | The pharmacogenetics of OATP1B1 variants and their impact on the pharmacokinetics and efficacy of elbasvir/grazoprevir. | Guo Z et al. | 2019 | Pharmacogenomics |
| 31777781 | Association of SLCO1B1 *14 Allele with Poor Response to Methotrexate in Juvenile Idiopathic Arthritis Patients. | Ramsey LB et al. | 2019 | ACR open rheumatology |
| 32022294 | Influence of SLCO1B1 polymorphisms on lopinavir C(trough) in Serbian HIV/AIDS patients. | Dragović G et al. | 2020 | British journal of clinical pharmacology |
| 33875422 | Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment. | Pernaute-Lau L et al. | 2021 | Antimicrobial agents and chemotherapy |
| 34423897 | SLCO1B1 *15 allele is associated with methotrexate-induced nausea in pediatric patients with inflammatory bowel disease. | Mehta RS et al. | 2022 | Clinical and translational science |
| 35693129 | Effect of Genetic Variations in Drug-Metabolizing Enzymes and Drug Transporters on the Pharmacokinetics of Rifamycins: A Systematic Review. | Sileshi T et al. | 2022 | Pharmacogenomics and personalized medicine |
| 36055153 | SLCO1B1 and SLC10A1 polymorphism and plasma rifampin concentrations in patients with co-morbidity tuberculosis-diabetes mellitus in Baja California, Mexico. | Perea-Jacobo R et al. | 2022 | Tuberculosis (Edinburgh, Scotland) |
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.