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.
rs2306283
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr12:21176804 (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>C / A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.431382 (138225/320424, ALFA)A=0.456009 (120701/264690, TOPMED)G=0.473714 (118510/250172, GnomAD_exome) (+ 28 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- SLCO1B1 : Missense Variant
- Publications
- 102 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 | 336210 | A=0.564733 | G=0.435267, T=0.000000 | 0.330234 | 0.200767 | 0.468999 | 32 |
| European | Sub | 280172 | A=0.593899 | G=0.406101, T=0.000000 | 0.355467 | 0.167668 | 0.476864 | 10 |
| African | Sub | 15582 | A=0.24188 | G=0.75812, T=0.00000 | 0.060968 | 0.577204 | 0.361828 | 1 |
| African Others | Sub | 562 | A=0.174 | G=0.826, T=0.000 | 0.032028 | 0.683274 | 0.284698 | 0 |
| African American | Sub | 15020 | A=0.24441 | G=0.75559, T=0.00000 | 0.062051 | 0.573236 | 0.364714 | 1 |
| Asian | Sub | 6680 | A=0.2584 | G=0.7416, T=0.0000 | 0.065269 | 0.548503 | 0.386228 | 0 |
| East Asian | Sub | 4748 | A=0.2578 | G=0.7422, T=0.0000 | 0.064869 | 0.549284 | 0.385847 | 0 |
| Other Asian | Sub | 1932 | A=0.2598 | G=0.7402, T=0.0000 | 0.066253 | 0.546584 | 0.387164 | 0 |
| Latin American 1 | Sub | 1452 | A=0.4697 | G=0.5303, T=0.0000 | 0.23416 | 0.294766 | 0.471074 | 1 |
| Latin American 2 | Sub | 7032 | A=0.5651 | G=0.4349, T=0.0000 | 0.324516 | 0.194255 | 0.481229 | 1 |
| South Asian | Sub | 5168 | A=0.5486 | G=0.4514, T=0.0000 | 0.312693 | 0.215557 | 0.471749 | 4 |
| Other | Sub | 20124 | A=0.52122 | G=0.47878, T=0.00000 | 0.288809 | 0.246372 | 0.464818 | 25 |
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 |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 320424 | A=0.568618 | G=0.431382, T=0.000000 |
| Allele Frequency Aggregator | European | Sub | 270558 | A=0.593455 | G=0.406545, T=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 18718 | A=0.52014 | G=0.47986, T=0.00000 |
| Allele Frequency Aggregator | African | Sub | 10816 | A=0.24797 | G=0.75203, T=0.00000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 7032 | A=0.5651 | G=0.4349, T=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 6680 | A=0.2584 | G=0.7416, T=0.0000 |
| Allele Frequency Aggregator | South Asian | Sub | 5168 | A=0.5486 | G=0.4514, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1452 | A=0.4697 | G=0.5303, T=0.0000 |
| TopMed | Global | Study-wide | 264690 | A=0.456009 | G=0.543991 |
| gnomAD - Exomes | Global | Study-wide | 250172 | A=0.526286 | G=0.473714 |
| gnomAD - Exomes | European | Sub | 134388 | A=0.588617 | G=0.411383 |
| gnomAD - Exomes | Asian | Sub | 48954 | A=0.42037 | G=0.57963 |
| gnomAD - Exomes | American | Sub | 34524 | A=0.56726 | G=0.43274 |
| gnomAD - Exomes | African | Sub | 16178 | A=0.22438 | G=0.77562 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10036 | A=0.54992 | G=0.45008 |
| gnomAD - Exomes | Other | Sub | 6092 | A=0.5330 | G=0.4670 |
| gnomAD - Genomes | Global | Study-wide | 139926 | A=0.466304 | G=0.533696 |
| gnomAD - Genomes | European | Sub | 75780 | A=0.58758 | G=0.41242 |
| gnomAD - Genomes | African | Sub | 41950 | A=0.23442 | G=0.76558 |
| gnomAD - Genomes | American | Sub | 13606 | A=0.53381 | G=0.46619 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3318 | A=0.5434 | G=0.4566 |
| gnomAD - Genomes | East Asian | Sub | 3124 | A=0.2455 | G=0.7545 |
| gnomAD - Genomes | Other | Sub | 2148 | A=0.4907 | G=0.5093 |
| ExAC | Global | Study-wide | 120988 | A=0.520514 | G=0.479486 |
| ExAC | Europe | Sub | 73092 | A=0.58581 | G=0.41419 |
| ExAC | Asian | Sub | 25150 | A=0.42751 | G=0.57249 |
| ExAC | American | Sub | 11516 | A=0.56973 | G=0.43027 |
| ExAC | African | Sub | 10330 | A=0.23204 | G=0.76796 |
| ExAC | Other | Sub | 900 | A=0.498 | G=0.502 |
| The PAGE Study | Global | Study-wide | 78692 | A=0.36836 | G=0.63164 |
| The PAGE Study | AfricanAmerican | Sub | 32512 | A=0.24170 | G=0.75830 |
| The PAGE Study | Mexican | Sub | 10806 | A=0.56293 | G=0.43707 |
| The PAGE Study | Asian | Sub | 8318 | A=0.3258 | G=0.6742 |
| The PAGE Study | PuertoRican | Sub | 7918 | A=0.4822 | G=0.5178 |
| The PAGE Study | NativeHawaiian | Sub | 4532 | A=0.3071 | G=0.6929 |
| The PAGE Study | Cuban | Sub | 4230 | A=0.5073 | G=0.4927 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.4033 | G=0.5967 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.5257 | G=0.4743 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.5136 | G=0.4864 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.5698 | G=0.4302 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.481 | G=0.519 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.34019 | G=0.65981 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.34397 | G=0.65603 |
| GO Exome Sequencing Project | Global | Study-wide | 12968 | A=0.47370 | G=0.52630 |
| GO Exome Sequencing Project | European American | Sub | 8570 | A=0.5963 | G=0.4037 |
| GO Exome Sequencing Project | African American | Sub | 4398 | A=0.2349 | G=0.7651 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.3785 | G=0.6215 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.1786 | G=0.8214 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.6051 | G=0.3949 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.4517 | G=0.5483 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.2342 | G=0.7658 |
| 1000Genomes_30x | American | Sub | 980 | A=0.533 | G=0.467 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.3776 | G=0.6224 |
| 1000Genomes | African | Sub | 1322 | A=0.1823 | G=0.8177 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.2381 | G=0.7619 |
| 1000Genomes | Europe | Sub | 1006 | A=0.5974 | G=0.4026 |
| 1000Genomes | South Asian | Sub | 978 | A=0.453 | G=0.547 |
| 1000Genomes | American | Sub | 694 | A=0.527 | G=0.473 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.6094 | G=0.3906 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.6030 | G=0.3970 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.5968 | G=0.4032 |
| MxGDAR/Encodat-PGx | Global | Study-wide | 3288 | A=0.5636 | G=0.4364 |
| MxGDAR/Encodat-PGx | MxGDAR | Sub | 3288 | A=0.5636 | G=0.4364 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.2573 | C=0.0000, G=0.7427, T=0.0000 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2080 | A=0.4038 | G=0.5962 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | A=0.253 | G=0.747 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | A=0.514 | G=0.486 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 348 | A=0.494 | G=0.506 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | A=0.591 | G=0.409 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | A=0.227 | G=0.773 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 214 | A=0.332 | G=0.668 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | A=0.29 | G=0.71 |
| HapMap | Global | Study-wide | 1890 | A=0.3466 | G=0.6534 |
| HapMap | American | Sub | 770 | A=0.447 | G=0.553 |
| HapMap | African | Sub | 690 | A=0.184 | G=0.816 |
| HapMap | Asian | Sub | 254 | A=0.295 | G=0.705 |
| HapMap | Europe | Sub | 176 | A=0.619 | G=0.381 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1130 | A=0.5823 | G=0.4177 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 624 | A=0.623 | G=0.377 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | A=0.632 | G=0.368 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | A=0.451 | G=0.549 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | A=0.611 | G=0.389 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 96 | A=0.38 | G=0.62 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | A=0.58 | G=0.42 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.593 | G=0.407 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 790 | A=0.249 | G=0.751 |
| CNV burdens in cranial meningiomas | CRM | Sub | 790 | A=0.249 | G=0.751 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 616 | A=0.232 | G=0.768 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.588 | G=0.412 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.592 | G=0.408 |
| SGDP_PRJ | Global | Study-wide | 460 | A=0.261 | G=0.739 |
| PharmGKB Aggregated | Global | Study-wide | 444 | A=0.448 | G=0.552 |
| PharmGKB Aggregated | PA148417638 | Sub | 356 | A=0.402 | G=0.598 |
| PharmGKB Aggregated | PA142898898 | Sub | 88 | A=0.64 | G=0.36 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | A=0.599 | G=0.401 |
| Qatari | Global | Study-wide | 216 | A=0.472 | G=0.528 |
| Siberian | Global | Study-wide | 48 | A=0.27 | G=0.73 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.68 | G=0.33 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 34 | A=0.59 | G=0.41 |
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.21176804A>C |
| GRCh38.p14 chr 12 | NC_000012.12:g.21176804A>G |
| GRCh38.p14 chr 12 | NC_000012.12:g.21176804A>T |
| GRCh37.p13 chr 12 | NC_000012.11:g.21329738A>C |
| GRCh37.p13 chr 12 | NC_000012.11:g.21329738A>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.21329738A>T |
| SLCO1B1 RefSeqGene (LRG_1022) | NG_011745.1:g.50611A>C |
| SLCO1B1 RefSeqGene (LRG_1022) | NG_011745.1:g.50611A>G |
| SLCO1B1 RefSeqGene (LRG_1022) | NG_011745.1:g.50611A>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.388A>C | N [AAT] > H [CAT] | Coding Sequence Variant |
| solute carrier organic anion transporter family member 1B1 | NP_006437.3:p.Asn130His | N (Asn) > H (His) | Missense Variant |
| SLCO1B1 transcript | NM_006446.5:c.388A>G | N [AAT] > D [GAT] | Coding Sequence Variant |
| solute carrier organic anion transporter family member 1B1 | NP_006437.3:p.Asn130Asp | N (Asn) > D (Asp) | Missense Variant |
| SLCO1B1 transcript | NM_006446.5:c.388A>T | N [AAT] > Y [TAT] | Coding Sequence Variant |
| solute carrier organic anion transporter family member 1B1 | NP_006437.3:p.Asn130Tyr | N (Asn) > Y (Tyr) | 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:
254471
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000251891.8 | not specified | Benign |
| RCV000405902.13 | Rotor syndrome | Benign |
| RCV000755390.3 | not provided | Benign |
| RCV000999564.2 | Gilbert syndrome | 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= | C | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 12 | NC_000012.12:g.21176804= | NC_000012.12:g.21176804A>C | NC_000012.12:g.21176804A>G | NC_000012.12:g.21176804A>T |
| GRCh37.p13 chr 12 | NC_000012.11:g.21329738= | NC_000012.11:g.21329738A>C | NC_000012.11:g.21329738A>G | NC_000012.11:g.21329738A>T |
| SLCO1B1 RefSeqGene (LRG_1022) | NG_011745.1:g.50611= | NG_011745.1:g.50611A>C | NG_011745.1:g.50611A>G | NG_011745.1:g.50611A>T |
| SLCO1B1 transcript | NM_006446.5:c.388= | NM_006446.5:c.388A>C | NM_006446.5:c.388A>G | NM_006446.5:c.388A>T |
| SLCO1B1 transcript | NM_006446.4:c.388= | NM_006446.4:c.388A>C | NM_006446.4:c.388A>G | NM_006446.4:c.388A>T |
| solute carrier organic anion transporter family member 1B1 | NP_006437.3:p.Asn130= | NP_006437.3:p.Asn130His | NP_006437.3:p.Asn130Asp | NP_006437.3:p.Asn130Tyr |
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#.
185 SubSNP,
31 Frequency,
4 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | YUSUKE | ss3253780 | Sep 28, 2001 (100) |
| 2 | RIKENSNPRC | ss5603431 | Dec 12, 2002 (110) |
| 3 | WI_SSAHASNP | ss13610057 | Dec 05, 2003 (119) |
| 4 | SC_SNP | ss14822259 | Dec 05, 2003 (119) |
| 5 | CSHL-HAPMAP | ss19947542 | Feb 27, 2004 (120) |
| 6 | PERLEGEN | ss24436875 | Sep 20, 2004 (123) |
| 7 | ABI | ss38896788 | Mar 15, 2006 (126) |
| 8 | ILLUMINA | ss65731216 | Oct 16, 2006 (127) |
| 9 | ILLUMINA | ss66612880 | Dec 01, 2006 (127) |
| 10 | ILLUMINA | ss67245465 | Dec 01, 2006 (127) |
| 11 | ILLUMINA | ss67642496 | Dec 01, 2006 (127) |
| 12 | PERLEGEN | ss69103278 | May 18, 2007 (127) |
| 13 | PHARMGKB_PAAR-SJCRH | ss69368413 | May 18, 2007 (127) |
| 14 | ILLUMINA | ss70723795 | May 26, 2008 (130) |
| 15 | ILLUMINA | ss71292406 | May 18, 2007 (127) |
| 16 | AFFY | ss74811817 | Aug 16, 2007 (128) |
| 17 | ILLUMINA | ss75435153 | Dec 06, 2007 (129) |
| 18 | HGSV | ss77554171 | Dec 06, 2007 (129) |
| 19 | ILLUMINA | ss79129007 | Dec 15, 2007 (130) |
| 20 | HGSV | ss83233269 | Dec 15, 2007 (130) |
| 21 | KRIBB_YJKIM | ss84031423 | Dec 15, 2007 (130) |
| 22 | PHARMGKB_AB_DME | ss84165385 | Dec 15, 2007 (130) |
| 23 | HUMANGENOME_JCVI | ss97292834 | Feb 06, 2009 (130) |
| 24 | CNG | ss98335510 | Feb 06, 2009 (130) |
| 25 | SNP500CANCER | ss105439951 | Feb 06, 2009 (130) |
| 26 | 1000GENOMES | ss111612509 | Jan 25, 2009 (130) |
| 27 | 1000GENOMES | ss113266312 | Jan 25, 2009 (130) |
| 28 | ILLUMINA-UK | ss118629314 | Feb 14, 2009 (130) |
| 29 | PMT | ss120239921 | Dec 01, 2009 (131) |
| 30 | ILLUMINA | ss121999847 | Dec 01, 2009 (131) |
| 31 | ENSEMBL | ss142597124 | Dec 01, 2009 (131) |
| 32 | ILLUMINA | ss153902832 | Dec 01, 2009 (131) |
| 33 | GMI | ss157207221 | Dec 01, 2009 (131) |
| 34 | ILLUMINA | ss159380637 | Dec 01, 2009 (131) |
| 35 | SEATTLESEQ | ss159725853 | Dec 01, 2009 (131) |
| 36 | ILLUMINA | ss160534822 | Dec 01, 2009 (131) |
| 37 | COMPLETE_GENOMICS | ss169272516 | Jul 04, 2010 (132) |
| 38 | ILLUMINA | ss171188056 | Jul 04, 2010 (132) |
| 39 | ILLUMINA | ss173281642 | Jul 04, 2010 (132) |
| 40 | BUSHMAN | ss203633002 | Jul 04, 2010 (132) |
| 41 | 1000GENOMES | ss225644843 | Jul 14, 2010 (132) |
| 42 | 1000GENOMES | ss235854347 | Jul 15, 2010 (132) |
| 43 | 1000GENOMES | ss242426996 | Jul 15, 2010 (132) |
| 44 | GMI | ss281304707 | May 04, 2012 (137) |
| 45 | GMI | ss286521386 | Apr 25, 2013 (138) |
| 46 | PJP | ss291397127 | May 09, 2011 (134) |
| 47 | NHLBI-ESP | ss342351439 | May 09, 2011 (134) |
| 48 | ILLUMINA | ss480526284 | May 04, 2012 (137) |
| 49 | ILLUMINA | ss480542684 | May 04, 2012 (137) |
| 50 | ILLUMINA | ss481353665 | Sep 08, 2015 (146) |
| 51 | ILLUMINA | ss485060358 | May 04, 2012 (137) |
| 52 | 1000GENOMES | ss491038263 | May 04, 2012 (137) |
| 53 | EXOME_CHIP | ss491465332 | May 04, 2012 (137) |
| 54 | CLINSEQ_SNP | ss491661691 | May 04, 2012 (137) |
| 55 | ILLUMINA | ss537075863 | Sep 08, 2015 (146) |
| 56 | TISHKOFF | ss563039336 | Apr 25, 2013 (138) |
| 57 | SSMP | ss658575623 | Apr 25, 2013 (138) |
| 58 | ILLUMINA | ss778491828 | Sep 08, 2015 (146) |
| 59 | ILLUMINA | ss780908752 | Sep 08, 2015 (146) |
| 60 | ILLUMINA | ss782976423 | Sep 08, 2015 (146) |
| 61 | ILLUMINA | ss783596224 | Sep 08, 2015 (146) |
| 62 | ILLUMINA | ss783937554 | Sep 08, 2015 (146) |
| 63 | ILLUMINA | ss825459525 | Apr 01, 2015 (144) |
| 64 | ILLUMINA | ss832232886 | Sep 08, 2015 (146) |
| 65 | ILLUMINA | ss832892423 | Jul 13, 2019 (153) |
| 66 | ILLUMINA | ss833947840 | Sep 08, 2015 (146) |
| 67 | JMKIDD_LAB | ss974482888 | Aug 21, 2014 (142) |
| 68 | EVA-GONL | ss989317035 | Aug 21, 2014 (142) |
| 69 | JMKIDD_LAB | ss1067532204 | Aug 21, 2014 (142) |
| 70 | JMKIDD_LAB | ss1078305413 | Aug 21, 2014 (142) |
| 71 | 1000GENOMES | ss1344205386 | Aug 21, 2014 (142) |
| 72 | HAMMER_LAB | ss1397628254 | Sep 08, 2015 (146) |
| 73 | DDI | ss1426868001 | Apr 01, 2015 (144) |
| 74 | EVA_GENOME_DK | ss1576155891 | Apr 01, 2015 (144) |
| 75 | EVA_FINRISK | ss1584080709 | Apr 01, 2015 (144) |
| 76 | EVA_DECODE | ss1598989753 | Apr 01, 2015 (144) |
| 77 | EVA_UK10K_ALSPAC | ss1628166957 | Apr 01, 2015 (144) |
| 78 | EVA_UK10K_TWINSUK | ss1671160990 | Apr 01, 2015 (144) |
| 79 | EVA_EXAC | ss1690819622 | Apr 01, 2015 (144) |
| 80 | EVA_MGP | ss1711323284 | Apr 01, 2015 (144) |
| 81 | EVA_SVP | ss1713312647 | Apr 01, 2015 (144) |
| 82 | ILLUMINA | ss1752059969 | Sep 08, 2015 (146) |
| 83 | ILLUMINA | ss1752059970 | Sep 08, 2015 (146) |
| 84 | HAMMER_LAB | ss1807153112 | Sep 08, 2015 (146) |
| 85 | ILLUMINA | ss1917871583 | Feb 12, 2016 (147) |
| 86 | WEILL_CORNELL_DGM | ss1932681506 | Feb 12, 2016 (147) |
| 87 | ILLUMINA | ss1946333524 | Feb 12, 2016 (147) |
| 88 | ILLUMINA | ss1959419461 | Feb 12, 2016 (147) |
| 89 | GENOMED | ss1967542574 | Jul 19, 2016 (147) |
| 90 | JJLAB | ss2027088107 | Sep 14, 2016 (149) |
| 91 | ILLUMINA | ss2095032088 | Dec 20, 2016 (150) |
| 92 | USC_VALOUEV | ss2155413859 | Dec 20, 2016 (150) |
| 93 | HUMAN_LONGEVITY | ss2188375160 | Dec 20, 2016 (150) |
| 94 | SYSTEMSBIOZJU | ss2628023461 | Nov 08, 2017 (151) |
| 95 | ILLUMINA | ss2632934594 | Nov 08, 2017 (151) |
| 96 | ILLUMINA | ss2635034363 | Nov 08, 2017 (151) |
| 97 | GRF | ss2699742140 | Nov 08, 2017 (151) |
| 98 | ILLUMINA | ss2710756082 | Nov 08, 2017 (151) |
| 99 | GNOMAD | ss2739675613 | Nov 08, 2017 (151) |
| 100 | GNOMAD | ss2748826215 | Nov 08, 2017 (151) |
| 101 | GNOMAD | ss2908174488 | Nov 08, 2017 (151) |
| 102 | AFFY | ss2984969930 | Nov 08, 2017 (151) |
| 103 | AFFY | ss2985612464 | Nov 08, 2017 (151) |
| 104 | SWEGEN | ss3009330227 | Nov 08, 2017 (151) |
| 105 | ILLUMINA | ss3021413004 | Nov 08, 2017 (151) |
| 106 | EVA_SAMSUNG_MC | ss3023067571 | Nov 08, 2017 (151) |
| 107 | BIOINF_KMB_FNS_UNIBA | ss3027350320 | Nov 08, 2017 (151) |
| 108 | CSIRBIOHTS | ss3029638258 | Nov 08, 2017 (151) |
| 109 | CSHL | ss3349960639 | Nov 08, 2017 (151) |
| 110 | ILLUMINA | ss3626833353 | Oct 12, 2018 (152) |
| 111 | ILLUMINA | ss3626833354 | Oct 12, 2018 (152) |
| 112 | ILLUMINA | ss3630945757 | Oct 12, 2018 (152) |
| 113 | ILLUMINA | ss3633013280 | Oct 12, 2018 (152) |
| 114 | ILLUMINA | ss3633713882 | Oct 12, 2018 (152) |
| 115 | ILLUMINA | ss3634494913 | Oct 12, 2018 (152) |
| 116 | ILLUMINA | ss3634494914 | Oct 12, 2018 (152) |
| 117 | ILLUMINA | ss3635404855 | Oct 12, 2018 (152) |
| 118 | ILLUMINA | ss3636179224 | Oct 12, 2018 (152) |
| 119 | ILLUMINA | ss3637155813 | Oct 12, 2018 (152) |
| 120 | ILLUMINA | ss3637951500 | Oct 12, 2018 (152) |
| 121 | ILLUMINA | ss3638989662 | Oct 12, 2018 (152) |
| 122 | ILLUMINA | ss3639496717 | Oct 12, 2018 (152) |
| 123 | ILLUMINA | ss3640202246 | Oct 12, 2018 (152) |
| 124 | ILLUMINA | ss3640202247 | Oct 12, 2018 (152) |
| 125 | ILLUMINA | ss3642946069 | Oct 12, 2018 (152) |
| 126 | ILLUMINA | ss3644586484 | Oct 12, 2018 (152) |
| 127 | OMUKHERJEE_ADBS | ss3646439194 | Oct 12, 2018 (152) |
| 128 | URBANLAB | ss3649786495 | Oct 12, 2018 (152) |
| 129 | ILLUMINA | ss3651787122 | Oct 12, 2018 (152) |
| 130 | ILLUMINA | ss3651787123 | Oct 12, 2018 (152) |
| 131 | ILLUMINA | ss3653742476 | Oct 12, 2018 (152) |
| 132 | EGCUT_WGS | ss3676645997 | Jul 13, 2019 (153) |
| 133 | EVA_DECODE | ss3693259732 | Jul 13, 2019 (153) |
| 134 | ILLUMINA | ss3725309275 | Jul 13, 2019 (153) |
| 135 | ACPOP | ss3738837087 | Jul 13, 2019 (153) |
| 136 | ILLUMINA | ss3744392905 | Jul 13, 2019 (153) |
| 137 | ILLUMINA | ss3744795626 | Jul 13, 2019 (153) |
| 138 | ILLUMINA | ss3744795627 | Jul 13, 2019 (153) |
| 139 | EVA | ss3750230586 | Jul 13, 2019 (153) |
| 140 | PAGE_CC | ss3771679141 | Jul 13, 2019 (153) |
| 141 | ILLUMINA | ss3772295150 | Jul 13, 2019 (153) |
| 142 | ILLUMINA | ss3772295151 | Jul 13, 2019 (153) |
| 143 | KHV_HUMAN_GENOMES | ss3815548194 | Jul 13, 2019 (153) |
| 144 | EVA | ss3824711155 | Apr 26, 2020 (154) |
| 145 | EVA | ss3825528408 | Apr 26, 2020 (154) |
| 146 | EVA | ss3825817686 | Apr 26, 2020 (154) |
| 147 | EVA | ss3833014589 | Apr 26, 2020 (154) |
| 148 | EVA | ss3840075127 | Apr 26, 2020 (154) |
| 149 | EVA | ss3845558974 | Apr 26, 2020 (154) |
| 150 | HGDP | ss3847444110 | Apr 26, 2020 (154) |
| 151 | SGDP_PRJ | ss3877844633 | Apr 26, 2020 (154) |
| 152 | KRGDB | ss3926377255 | Apr 26, 2020 (154) |
| 153 | FSA-LAB | ss3984023417 | Apr 26, 2021 (155) |
| 154 | EVA | ss3984449713 | Apr 26, 2021 (155) |
| 155 | EVA | ss3984663674 | Apr 26, 2021 (155) |
| 156 | EVA | ss3985579643 | Apr 26, 2021 (155) |
| 157 | EVA | ss3986058795 | Apr 26, 2021 (155) |
| 158 | EVA | ss3986562202 | Apr 26, 2021 (155) |
| 159 | TOPMED | ss4911206315 | Apr 26, 2021 (155) |
| 160 | TOMMO_GENOMICS | ss5205394637 | Apr 26, 2021 (155) |
| 161 | EVA | ss5236903605 | Apr 26, 2021 (155) |
| 162 | EVA | ss5237219027 | Apr 26, 2021 (155) |
| 163 | EVA | ss5237659605 | Oct 13, 2022 (156) |
| 164 | 1000G_HIGH_COVERAGE | ss5290064481 | Oct 13, 2022 (156) |
| 165 | TRAN_CS_UWATERLOO | ss5314434913 | Oct 13, 2022 (156) |
| 166 | EVA | ss5315606460 | Oct 13, 2022 (156) |
| 167 | HUGCELL_USP | ss5484924543 | Oct 13, 2022 (156) |
| 168 | EVA | ss5510619764 | Oct 13, 2022 (156) |
| 169 | EVA | ss5512473919 | Oct 13, 2022 (156) |
| 170 | 1000G_HIGH_COVERAGE | ss5587120826 | Oct 13, 2022 (156) |
| 171 | EVA | ss5624030206 | Oct 13, 2022 (156) |
| 172 | SANFORD_IMAGENETICS | ss5652739651 | Oct 13, 2022 (156) |
| 173 | TOMMO_GENOMICS | ss5754290571 | Oct 13, 2022 (156) |
| 174 | EVA | ss5799866318 | Oct 13, 2022 (156) |
| 175 | EVA | ss5800064722 | Oct 13, 2022 (156) |
| 176 | EVA | ss5800175370 | Oct 13, 2022 (156) |
| 177 | YY_MCH | ss5813078391 | Oct 13, 2022 (156) |
| 178 | EVA | ss5837690624 | Oct 13, 2022 (156) |
| 179 | EVA | ss5847662848 | Oct 13, 2022 (156) |
| 180 | EVA | ss5848347703 | Oct 13, 2022 (156) |
| 181 | EVA | ss5850291724 | Oct 13, 2022 (156) |
| 182 | EVA | ss5903573683 | Oct 13, 2022 (156) |
| 183 | EVA | ss5936552348 | Oct 13, 2022 (156) |
| 184 | EVA | ss5944090219 | Oct 13, 2022 (156) |
| 185 | EVA | ss5980726509 | Oct 13, 2022 (156) |
| 186 | 1000Genomes | NC_000012.11 - 21329738 | Oct 12, 2018 (152) |
| 187 | 1000Genomes_30x | NC_000012.12 - 21176804 | Oct 13, 2022 (156) |
| 188 | The Avon Longitudinal Study of Parents and Children | NC_000012.11 - 21329738 | Oct 12, 2018 (152) |
| 189 | Genome-wide autozygosity in Daghestan | NC_000012.10 - 21221005 | Apr 26, 2020 (154) |
| 190 | Genetic variation in the Estonian population | NC_000012.11 - 21329738 | Oct 12, 2018 (152) |
| 191 | ExAC | NC_000012.11 - 21329738 | Oct 12, 2018 (152) |
| 192 | FINRISK | NC_000012.11 - 21329738 | Apr 26, 2020 (154) |
| 193 | The Danish reference pan genome | NC_000012.11 - 21329738 | Apr 26, 2020 (154) |
| 194 | gnomAD - Genomes | NC_000012.12 - 21176804 | Apr 26, 2021 (155) |
| 195 | gnomAD - Exomes | NC_000012.11 - 21329738 | Jul 13, 2019 (153) |
| 196 | GO Exome Sequencing Project | NC_000012.11 - 21329738 | Oct 12, 2018 (152) |
| 197 | Genome of the Netherlands Release 5 | NC_000012.11 - 21329738 | Apr 26, 2020 (154) |
| 198 | HGDP-CEPH-db Supplement 1 | NC_000012.10 - 21221005 | Apr 26, 2020 (154) |
| 199 | HapMap | NC_000012.12 - 21176804 | Apr 26, 2020 (154) |
| 200 | KOREAN population from KRGDB | NC_000012.11 - 21329738 | Apr 26, 2020 (154) |
| 201 | Medical Genome Project healthy controls from Spanish population | NC_000012.11 - 21329738 | Apr 26, 2020 (154) |
| 202 | Northern Sweden | NC_000012.11 - 21329738 | Jul 13, 2019 (153) |
| 203 | The PAGE Study | NC_000012.12 - 21176804 | Jul 13, 2019 (153) |
| 204 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000012.11 - 21329738 | Apr 26, 2021 (155) |
| 205 | CNV burdens in cranial meningiomas | NC_000012.11 - 21329738 | Apr 26, 2021 (155) |
| 206 | MxGDAR/Encodat-PGx | NC_000012.11 - 21329738 | Apr 26, 2021 (155) |
| 207 | PharmGKB Aggregated | NC_000012.12 - 21176804 | Apr 26, 2020 (154) |
| 208 | Qatari | NC_000012.11 - 21329738 | Apr 26, 2020 (154) |
| 209 | SGDP_PRJ | NC_000012.11 - 21329738 | Apr 26, 2020 (154) |
| 210 | Siberian | NC_000012.11 - 21329738 | Apr 26, 2020 (154) |
| 211 | 8.3KJPN | NC_000012.11 - 21329738 | Apr 26, 2021 (155) |
| 212 | 14KJPN | NC_000012.12 - 21176804 | Oct 13, 2022 (156) |
| 213 | TopMed | NC_000012.12 - 21176804 | Apr 26, 2021 (155) |
| 214 | UK 10K study - Twins | NC_000012.11 - 21329738 | Oct 12, 2018 (152) |
| 215 | A Vietnamese Genetic Variation Database | NC_000012.11 - 21329738 | Jul 13, 2019 (153) |
| 216 | ALFA | NC_000012.12 - 21176804 | Apr 26, 2021 (155) |
| 217 | ClinVar | RCV000251891.8 | Oct 13, 2022 (156) |
| 218 | ClinVar | RCV000405902.13 | Oct 13, 2022 (156) |
| 219 | ClinVar | RCV000755390.3 | Apr 26, 2020 (154) |
| 220 | ClinVar | RCV000999564.2 | 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) |
|---|---|
| rs17389242 | Oct 08, 2004 (123) |
| rs52832430 | Sep 21, 2007 (128) |
| rs60767041 | May 26, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 33554649, ss3926377255 | NC_000012.11:21329737:A:C | NC_000012.12:21176803:A:C | (self) |
| ss77554171, ss83233269, ss3638989662, ss3639496717 | NC_000012.9:21221004:A:G | NC_000012.12:21176803:A:G | (self) |
| 99229, 122002, ss111612509, ss113266312, ss118629314, ss169272516, ss203633002, ss281304707, ss286521386, ss291397127, ss480526284, ss491661691, ss825459525, ss1397628254, ss1598989753, ss1713312647, ss2635034363, ss3642946069, ss3847444110 | NC_000012.10:21221004:A:G | NC_000012.12:21176803:A:G | (self) |
| 56923983, 31607565, 22384245, 1109563, 77170, 2875598, 8903545, 1168640, 14103380, 33554649, 439044, 12121952, 805570, 213166, 2714, 14723436, 29861613, 7930213, 63363944, 31607565, 7013348, ss225644843, ss235854347, ss242426996, ss342351439, ss480542684, ss481353665, ss485060358, ss491038263, ss491465332, ss537075863, ss563039336, ss658575623, ss778491828, ss780908752, ss782976423, ss783596224, ss783937554, ss832232886, ss832892423, ss833947840, ss974482888, ss989317035, ss1067532204, ss1078305413, ss1344205386, ss1426868001, ss1576155891, ss1584080709, ss1628166957, ss1671160990, ss1690819622, ss1711323284, ss1752059969, ss1752059970, ss1807153112, ss1917871583, ss1932681506, ss1946333524, ss1959419461, ss1967542574, ss2027088107, ss2095032088, ss2155413859, ss2628023461, ss2632934594, ss2699742140, ss2710756082, ss2739675613, ss2748826215, ss2908174488, ss2984969930, ss2985612464, ss3009330227, ss3021413004, ss3023067571, ss3029638258, ss3349960639, ss3626833353, ss3626833354, ss3630945757, ss3633013280, ss3633713882, ss3634494913, ss3634494914, ss3635404855, ss3636179224, ss3637155813, ss3637951500, ss3640202246, ss3640202247, ss3644586484, ss3646439194, ss3651787122, ss3651787123, ss3653742476, ss3676645997, ss3738837087, ss3744392905, ss3744795626, ss3744795627, ss3750230586, ss3772295150, ss3772295151, ss3824711155, ss3825528408, ss3825817686, ss3833014589, ss3840075127, ss3877844633, ss3926377255, ss3984023417, ss3984449713, ss3984663674, ss3985579643, ss3986058795, ss3986562202, ss5205394637, ss5315606460, ss5510619764, ss5512473919, ss5624030206, ss5652739651, ss5799866318, ss5800064722, ss5800175370, ss5837690624, ss5847662848, ss5848347703, ss5936552348, ss5944090219, ss5980726509 | NC_000012.11:21329737:A:G | NC_000012.12:21176803:A:G | (self) |
| RCV000251891.8, RCV000405902.13, RCV000755390.3, RCV000999564.2, 74646761, 401379533, 771110, 900610, 2673, 88127675, 126751972, 2410191933, ss2188375160, ss3027350320, ss3649786495, ss3693259732, ss3725309275, ss3771679141, ss3815548194, ss3845558974, ss4911206315, ss5236903605, ss5237219027, ss5237659605, ss5290064481, ss5314434913, ss5484924543, ss5587120826, ss5754290571, ss5813078391, ss5850291724, ss5903573683 | NC_000012.12:21176803:A:G | NC_000012.12:21176803:A:G | (self) |
| ss13610057, ss14822259, ss19947542 | NT_009714.16:14088711:A:G | NC_000012.12:21176803:A:G | (self) |
| ss3253780, ss5603431, ss24436875, ss38896788, ss65731216, ss66612880, ss67245465, ss67642496, ss69103278, ss69368413, ss70723795, ss71292406, ss74811817, ss75435153, ss79129007, ss84031423, ss84165385, ss97292834, ss98335510, ss105439951, ss120239921, ss121999847, ss142597124, ss153902832, ss157207221, ss159380637, ss159725853, ss160534822, ss171188056, ss173281642 | NT_009714.17:14089861:A:G | NC_000012.12:21176803:A:G | (self) |
| 33554649, ss3926377255, ss5512473919 | NC_000012.11:21329737:A:T | NC_000012.12:21176803:A:T | (self) |
| 2410191933 | NC_000012.12:21176803:A:T | NC_000012.12:21176803:A:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
102
citations for rs2306283
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 15564882 | Functional analysis of single nucleotide polymorphisms of hepatic organic anion transporter OATP1B1 (OATP-C). | Iwai M et al. | 2004 | Pharmacogenetics |
| 18547414 | Genotyping panel for assessing response to cancer chemotherapy. | Dai Z et al. | 2008 | BMC medical genomics |
| 19419973 | Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. | Sanna S et al. | 2009 | Human molecular genetics |
| 19940846 | The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology. | Kroetz DL et al. | 2010 | Clinical pharmacology and therapeutics |
| 19952871 | PharmGKB very important pharmacogene: SLCO1B1. | Oshiro C et al. | 2010 | Pharmacogenetics and genomics |
| 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 |
| 20389299 | Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism. | Xu CF et al. | 2010 | British journal of cancer |
| 20921971 | Mapping genes that predict treatment outcome in admixed populations. | Baye TM et al. | 2010 | The pharmacogenomics journal |
| 21072184 | Flavopiridol pharmacogenetics: clinical and functional evidence for the role of SLCO1B1/OATP1B1 in flavopiridol disposition. | Ni W et al. | 2010 | PloS one |
| 21178985 | Common nonsynonymous substitutions in SLCO1B1 predispose to statin intolerance in routinely treated individuals with type 2 diabetes: a go-DARTS study. | Donnelly LA et al. | 2011 | Clinical pharmacology and therapeutics |
| 21386754 | Cerivastatin, genetic variants, and the risk of rhabdomyolysis. | Marciante KD et al. | 2011 | Pharmacogenetics and genomics |
| 21457551 | The association of polymorphisms in hormone metabolism pathway genes, menopausal hormone therapy, and breast cancer risk: a nested case-control study in the California Teachers Study cohort. | Lee E et al. | 2011 | Breast cancer research |
| 21538436 | Hepatic organic anion transporting polypeptide transporter and thyroid hormone receptor interplay determines cholesterol and glucose homeostasis. | Meyer zu Schwabedissen HE et al. | 2011 | Hepatology (Baltimore, Md.) |
| 21630030 | Frequency of the SLCO1B1 388A>G and the 521T>C polymorphism in Tanzania genotyped by a new LightCycler®-based method. | Aklillu E et al. | 2011 | European journal of clinical pharmacology |
| 21892003 | Single nucleotide polymorphisms of ABCC5 and ABCG1 transporter genes correlate to irinotecan-associated gastrointestinal toxicity in colorectal cancer patients: a DMET microarray profiling study. | Di Martino MT et al. | 2011 | Cancer biology & therapy |
| 21928084 | SLCO1B1 haplotypes are not associated with atorvastatin-induced myalgia in Brazilian patients with familial hypercholesterolemia. | Santos PC et al. | 2012 | European journal of clinical pharmacology |
| 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 |
| 22045187 | Methylenetetrahydrofolate reductase genetic polymorphisms and toxicity to 5-FU-based chemoradiation in rectal cancer. | Thomas F et al. | 2011 | British journal of cancer |
| 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 |
| 22162992 | Pharmacogenetic & pharmacokinetic biomarker for efavirenz based ARV and rifampicin based anti-TB drug induced liver injury in TB-HIV infected patients. | Yimer G et al. | 2011 | PloS one |
| 22189199 | Genetic variation at the SLCO1B1 gene locus and low density lipoprotein cholesterol lowering response to pravastatin in the elderly. | Akao H et al. | 2012 | Atherosclerosis |
| 22533838 | Organic anion transporting polypeptides OATP1B1 and OATP1B3 and their genetic variants influence the pharmacokinetics and pharmacodynamics of raloxifene. | Trdan Lušin T et al. | 2012 | Journal of translational medicine |
| 22552919 | Bioinformatics and variability in drug response: a protein structural perspective. | Lahti JL et al. | 2012 | Journal of the Royal Society, Interface |
| 22562052 | SLCO1B1 *15 haplotype is associated with rifampin-induced liver injury. | Li LM et al. | 2012 | Molecular medicine reports |
| 22580719 | UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association? | Alencastro de Azevedo L et al. | 2012 | Pediatric research |
| 22808112 | Liver enzyme abnormalities and associated risk factors in HIV patients on efavirenz-based HAART with or without tuberculosis co-infection in Tanzania. | Mugusi S et al. | 2012 | PloS one |
| 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 |
| 23233662 | Genome-wide study of methotrexate clearance replicates SLCO1B1. | Ramsey LB et al. | 2013 | Blood |
| 23300409 | Chapter 7: Pharmacogenomics. | Karczewski KJ et al. | 2012 | PLoS computational biology |
| 23471819 | Direct and rapid genotyping of SLCO1B1 388A>G and 521T>C in human blood specimens using the SmartAmp-2 method. | Yoshida K et al. | 2013 | The AAPS journal |
| 23480028 | Fentanyl pharmacokinetics is not dependent on hepatic uptake by organic anion-transporting polypeptide 1B1 in human beings. | Ziesenitz VC et al. | 2013 | Basic & clinical pharmacology & toxicology |
| 23861838 | Importance of ethnicity, CYP2B6 and ABCB1 genotype for efavirenz pharmacokinetics and treatment outcomes: a parallel-group prospective cohort study in two sub-Saharan Africa populations. | Ngaimisi E et al. | 2013 | PloS one |
| 23876492 | Clinical and pharmacogenetic predictors of circulating atorvastatin and rosuvastatin concentrations in routine clinical care. | DeGorter MK et al. | 2013 | Circulation. Cardiovascular genetics |
| 24086514 | Association of polymorphisms in pharmacogenetic candidate genes (OPRD1, GAL, ABCB1, OPRM1) with opioid dependence in European population: a case-control study. | Beer B 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 |
| 24143213 | SLCO1B1 and SLC19A1 gene variants and irinotecan-induced rapid response and survival: a prospective multicenter pharmacogenetics study of metastatic colorectal cancer. | Huang L et al. | 2013 | PloS one |
| 24762081 | SLCO1B1, SLCO2B1, and SLCO1B3 polymorphisms and susceptibility to bladder cancer risk. | Bui HT et al. | 2014 | Cancer investigation |
| 24865931 | Combined effects of the UGT1A1 and OATP2 gene polymorphisms as major risk factor for unconjugated hyperbilirubinemia in Indian neonates. | D'Silva S et al. | 2014 | Gene |
| 24909419 | A 30-years review on pharmacokinetics of antibiotics: is the right time for pharmacogenetics? | Baietto L et al. | 2014 | Current drug metabolism |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 24991206 | Polymorphisms in folate pathway and pemetrexed treatment outcome in patients with malignant pleural mesothelioma. | Goricar K et al. | 2014 | Radiology and oncology |
| 25110414 | Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years. | Panczyk M et al. | 2014 | World journal of gastroenterology |
| 25132748 | FOLFOX/FOLFIRI pharmacogenetics: the call for a personalized approach in colorectal cancer therapy. | Mohelnikova-Duchonova B et al. | 2014 | World journal of gastroenterology |
| 25224634 | Genetic variation in key genes associated with statin therapy in the Azores Islands (Portugal) healthy population. | Melo MS et al. | 2015 | Annals of human biology |
| 25279974 | Role of SLCO1B1, ABCB1, and CHRNA1 gene polymorphisms on the efficacy of rocuronium in Chinese patients. | Mei Y et al. | 2015 | Journal of clinical pharmacology |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 25926430 | Ethnic variability in the expression of hepatic drug transporters: absolute quantification by an optimized targeted quantitative proteomic approach. | Peng KW et al. | 2015 | Drug metabolism and disposition |
| 25963333 | A subset of genetic susceptibility variants for colorectal cancer also has prognostic value. | Noci S et al. | 2016 | The pharmacogenomics journal |
| 26334272 | SLCO1B1 c.388A>G Polymorphism Is Associated with HDL-C Levels in Response to Atorvastatin in Chilean Individuals. | Prado Y et al. | 2015 | International journal of molecular sciences |
| 26367500 | Impact of CYP2D6, CYP3A5, CYP2C19, CYP2A6, SLCO1B1, ABCB1, and ABCG2 gene polymorphisms on the pharmacokinetics of simvastatin and simvastatin acid. | Choi HY et al. | 2015 | Pharmacogenetics and genomics |
| 26369774 | Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. | Maggo SD et al. | 2016 | Clinical pharmacokinetics |
| 26482301 | Effect of SLCO1B1 Polymorphisms on Rifabutin Pharmacokinetics in African HIV-Infected Patients with Tuberculosis. | Hennig S et al. | 2016 | Antimicrobial agents and chemotherapy |
| 26663398 | Inherited variation in OATP1B1 is associated with treatment outcome in acute myeloid leukemia. | Drenberg CD et al. | 2016 | Clinical pharmacology and therapeutics |
| 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 |
| 26785747 | Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. | Iskakova AN et al. | 2016 | BMC genetics |
| 26858644 | Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. | Chua EW et al. | 2016 | Frontiers in pharmacology |
| 26929901 | Frequencies of single-nucleotide polymorphisms and haplotypes of the SLCO1B1 gene in selected populations of the western balkans. | Grapci AD et al. | 2015 | Balkan journal of medical genetics |
| 26932749 | Genetic determinants of lipid-lowering response to atorvastatin therapy in an Indian population. | Kadam P et al. | 2016 | Journal of clinical pharmacy and therapeutics |
| 27110117 | Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder. | Medhasi S et al. | 2016 | Neuropsychiatric disease and treatment |
| 27296832 | ABCB1 polymorphism is associated with atorvastatin-induced liver injury in Japanese population. | Fukunaga K et al. | 2016 | BMC genetics |
| 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 |
| 27533851 | Polymorphisms in SLCO1B1 and UGT1A1 are associated with sorafenib-induced toxicity. | Bins S et al. | 2016 | Pharmacogenomics |
| 28812116 | SLCO1B1 521T > C polymorphism associated with rosuvastatin-induced myotoxicity in Chinese coronary artery disease patients: a nested case-control study. | Liu JE et al. | 2017 | European journal of clinical pharmacology |
| 29193749 | Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years. | Borobia AM et al. | 2018 | Clinical and translational science |
| 29420305 | Effect of SLCO1B1 gene polymorphisms and vitamin D on statin-induced myopathy. | Alghalyini B et al. | 2018 | Drug metabolism and personalized therapy |
| 29422864 | Clinical Pharmacogenetic Models of Treatment Response to Methotrexate Monotherapy in Slovenian and Serbian Rheumatoid Arthritis Patients: Differences in Patient's Management May Preclude Generalization of the Models. | Jenko B et al. | 2018 | Frontiers in pharmacology |
| 29534995 | Statin-induced myopathy SLCO1B1 521T > C is associated with prediabetes, high body mass index and normal lipid profile in Emirati population. | Saber-Ayad M et al. | 2018 | Diabetes research and clinical practice |
| 29681089 | Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida. | Padula AM et al. | 2018 | American journal of medical genetics. Part A |
| 30010042 | Evaluation of serum SLCO1B1 levels and genetic variants of SLCO1B1 rs4149056 and rs2306283 in patients with early and exudative age-related macular degeneration. | Liutkeviciene R et al. | 2018 | Gene |
| 30130726 | UHPLC-MS/MS method for determination of atorvastatin calcium in human plasma: Application to a pharmacokinetic study based on healthy volunteers with specific genotype. | Xia B et al. | 2018 | Journal of pharmaceutical and biomedical analysis |
| 30360603 | Effects of ABCC2 and SLCO1B1 Polymorphisms on Treatment Responses in Thai Metastatic Colorectal Cancer Patients Treated with Irinotecan-Based Chemotherapy. | Treenert A et al. | 2018 | Asian Pacific journal of cancer prevention |
| 31022310 | Pharmacogenetic Analysis of OATP1B1, UGT1A1, and BCRP Variants in Relation to the Pharmacokinetics of Letermovir in Previously Conducted Clinical Studies. | Kobie J et al. | 2019 | Journal of clinical pharmacology |
| 31240859 | Association between genetic polymorphisms of SLCO1B1 and susceptibility to methimazole-induced liver injury. | Jin S et al. | 2019 | Basic & clinical pharmacology & toxicology |
| 31250727 | The pharmacogenetics of OATP1B1 variants and their impact on the pharmacokinetics and efficacy of elbasvir/grazoprevir. | Guo Z et al. | 2019 | Pharmacogenomics |
| 31267867 | Influence of the OATP Polymorphism on the Population Pharmacokinetics of Methotrexate in Chinese Patients. | Wang Z et al. | 2019 | Current drug metabolism |
| 31777781 | Association of SLCO1B1 *14 Allele with Poor Response to Methotrexate in Juvenile Idiopathic Arthritis Patients. | Ramsey LB et al. | 2019 | ACR open rheumatology |
| 31893292 | The influence of single-nucleotide polymorphisms on overall survival and toxicity in cabazitaxel-treated patients with metastatic castration-resistant prostate cancer. | Belderbos BPS et al. | 2020 | Cancer chemotherapy and pharmacology |
| 32326111 | Role of Genetic Variations in the Hepatic Handling of Drugs. | Marin JJG et al. | 2020 | International journal of molecular sciences |
| 32860365 | SLCO1B1 Gene Polymorphisms (rs2306283 and rs4149056) and Statin-Induced Myopathy in Jordanian Diabetics. | Shahrure ZM et al. | 2021 | Current reviews in clinical and experimental pharmacology |
| 32891149 | The SNPs rs429358 and rs7412 of APOE gene are association with cerebral infarction but not SNPs rs2306283 and rs4149056 of SLCO1B1 gene in southern Chinese Hakka population. | Wu H et al. | 2020 | Lipids in health and disease |
| 33025831 | SLCO1B1 variants as predictors of methotrexate-related toxicity in children with juvenile idiopathic arthritis. | Roszkiewicz J et al. | 2021 | Scandinavian journal of rheumatology |
| 33122935 | SLCO1B1 and ABCG2 Gene Polymorphisms in a Thai Population. | Rattanacheeworn P et al. | 2020 | Pharmacogenomics and personalized medicine |
| 33501733 | Genetic factors involved in delayed methotrexate elimination in children with acute lymphoblastic leukemia. | Cheng Y et al. | 2021 | Pediatric blood & cancer |
| 33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
| 33569925 | Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects. | Padula AM et al. | 2021 | Birth defects research |
| 33608664 | A systematic review and meta-analysis of genotype-based and individualized data analysis of SLCO1B1 gene and statin-induced myopathy. | Turongkaravee S et al. | 2021 | The pharmacogenomics journal |
| 33714108 | Polymorphisms in GNMT and DNMT3b are associated with methotrexate treatment outcome in plaque psoriasis. | Grželj J et al. | 2021 | Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie |
| 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 |
| 34062203 | Variation in biomarker levels of metals, persistent organic pollutants, and omega-3 fatty acids in association with genetic polymorphisms among Inuit in Nunavik, Canada. | Parajuli RP et al. | 2021 | Environmental research |
| 34154510 | Prevalence of SLCO1B1 single nucleotide variations and their association with hypercholesterolaemia in hypercholesterolemic patients in Gauteng, South Africa. | de Beer R et al. | 2021 | Xenobiotica; the fate of foreign compounds in biological systems |
| 34313350 | APOE gene ɛ4 allele (388C-526C) effects on serum lipids and risk of coronary artery disease in southern Chinese Hakka population. | Liu Q et al. | 2021 | Journal of clinical laboratory analysis |
| 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 |
| 34621706 | Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. | Kim B et al. | 2021 | Translational and clinical pharmacology |
| 34674552 | Prevalence of protective haplotypes of the SLCO1B1 gene for statin transport in Mexican populations. | Favela-Mendoza AF et al. | 2021 | Personalized medicine |
| 34703277 | Pharmacokinetics of Tenofovir Alafenamide Fumarate and Tenofovir in the Chinese People: Effects of Non-Genetic Factors and Genetic Variations. | Li X et al. | 2021 | Pharmacogenomics and personalized medicine |
| 34852805 | Ensemble learning for the early prediction of neonatal jaundice with genetic features. | Deng H et al. | 2021 | BMC medical informatics and decision making |
| 35501422 | Single-nucleotide polymorphisms and the effectiveness of taxane-based chemotherapy in premenopausal breast cancer: a population-based cohort study in Denmark. | Hjorth CF et al. | 2022 | Breast cancer research and treatment |
| 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 |
| 35892316 | Organic Anion Transporter Gene Variants Associated With Plasma Exposure and Long-Term Response to Atrasentan in Patients With Diabetic Kidney Disease. | Smeijer JD et al. | 2022 | Clinical pharmacology and therapeutics |
| 35942816 | A comprehensive pharmacogenomic study indicates roles for SLCO1B1, ABCG2 and SLCO2B1 in rosuvastatin pharmacokinetics. | Lehtisalo M et al. | 2023 | British journal of clinical pharmacology |
| 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.