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.
rs35599367
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr7:99768693 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A / G>C / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.030579 (8094/264690, TOPMED)A=0.031709 (4728/149106, GnomAD_genomes)A=0.01480 (1165/78700, PAGE_STUDY) (+ 13 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- CYP3A4 : Intron Variant
- Publications
- 80 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 | 42370 | G=0.95799 | A=0.04201 | 0.917442 | 0.001463 | 0.081095 | 1 |
| European | Sub | 36644 | G=0.95372 | A=0.04628 | 0.909126 | 0.001692 | 0.089182 | 1 |
| African | Sub | 3380 | G=0.9908 | A=0.0092 | 0.981657 | 0.0 | 0.018343 | 0 |
| African Others | Sub | 114 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 3266 | G=0.9905 | A=0.0095 | 0.981017 | 0.0 | 0.018983 | 0 |
| Asian | Sub | 190 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 164 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | G=0.966 | A=0.034 | 0.931507 | 0.0 | 0.068493 | 0 |
| Latin American 2 | Sub | 610 | G=0.974 | A=0.026 | 0.947541 | 0.0 | 0.052459 | 0 |
| South Asian | Sub | 104 | G=0.990 | A=0.010 | 0.980769 | 0.0 | 0.019231 | 0 |
| Other | Sub | 1296 | G=0.9761 | A=0.0239 | 0.95216 | 0.0 | 0.04784 | 0 |
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 | G=0.969421 | A=0.030579 |
| gnomAD v4 - Genomes | Global | Study-wide | 149106 | G=0.968291 | A=0.031709 |
| gnomAD v4 - Genomes | European | Sub | 78568 | G=0.95260 | A=0.04740 |
| gnomAD v4 - Genomes | African | Sub | 41506 | G=0.99123 | A=0.00877 |
| gnomAD v4 - Genomes | American | Sub | 15280 | G=0.97454 | A=0.02546 |
| gnomAD v4 - Genomes | East Asian | Sub | 5178 | G=1.0000 | A=0.0000 |
| gnomAD v4 - Genomes | South Asian | Sub | 4810 | G=0.9909 | A=0.0091 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3470 | G=0.9418 | A=0.0582 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 294 | G=0.983 | A=0.017 |
| The PAGE Study | Global | Study-wide | 78700 | G=0.98520 | A=0.01480 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | G=0.99059 | A=0.00941 |
| The PAGE Study | Mexican | Sub | 10810 | G=0.97863 | A=0.02137 |
| The PAGE Study | Asian | Sub | 8318 | G=0.9999 | A=0.0001 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.9720 | A=0.0280 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.9854 | A=0.0146 |
| The PAGE Study | Cuban | Sub | 4230 | G=0.9697 | A=0.0303 |
| The PAGE Study | Dominican | Sub | 3826 | G=0.9820 | A=0.0180 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.9816 | A=0.0184 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.9763 | A=0.0237 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.9746 | A=0.0254 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.979 | A=0.021 |
| Allele Frequency Aggregator | Total | Global | 42370 | G=0.95799 | A=0.04201 |
| Allele Frequency Aggregator | European | Sub | 36644 | G=0.95372 | A=0.04628 |
| Allele Frequency Aggregator | African | Sub | 3380 | G=0.9908 | A=0.0092 |
| Allele Frequency Aggregator | Other | Sub | 1296 | G=0.9761 | A=0.0239 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | G=0.974 | A=0.026 |
| Allele Frequency Aggregator | Asian | Sub | 190 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | G=0.966 | A=0.034 |
| Allele Frequency Aggregator | South Asian | Sub | 104 | G=0.990 | A=0.010 |
| Korean Genome Project 4K | KOREAN | Study-wide | 7234 | G=0.9999 | A=0.0001 |
| 1000Genomes_30X | Global | Study-wide | 6404 | G=0.9858 | A=0.0142 |
| 1000Genomes_30X | African | Sub | 1786 | G=0.9989 | A=0.0011 |
| 1000Genomes_30X | Europe | Sub | 1266 | G=0.9534 | A=0.0466 |
| 1000Genomes_30X | South Asian | Sub | 1202 | G=0.9933 | A=0.0067 |
| 1000Genomes_30X | East Asian | Sub | 1170 | G=1.0000 | A=0.0000 |
| 1000Genomes_30X | American | Sub | 980 | G=0.978 | A=0.022 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.9850 | A=0.0150 |
| 1000Genomes | African | Sub | 1322 | G=0.9992 | A=0.0008 |
| 1000Genomes | East Asian | Sub | 1008 | G=1.0000 | A=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | G=0.9503 | A=0.0497 |
| 1000Genomes | South Asian | Sub | 978 | G=0.994 | A=0.006 |
| 1000Genomes | American | Sub | 694 | G=0.974 | A=0.026 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.9463 | A=0.0537 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.9431 | A=0.0569 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.940 | A=0.060 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.977 | A=0.023 |
| Qatari | Global | Study-wide | 216 | G=0.981 | A=0.019 |
| PharmGKB Aggregated | Global | Study-wide | 194 | G=0.943 | A=0.057 |
| PharmGKB Aggregated | PA130602285 | Sub | 194 | G=0.943 | A=0.057 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.90 | A=0.10 |
| SGDP_PRJ | Global | Study-wide | 14 | G=0.50 | A=0.50 |
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 7 | NC_000007.14:g.99768693G>A |
| GRCh38.p14 chr 7 | NC_000007.14:g.99768693G>C |
| GRCh38.p14 chr 7 | NC_000007.14:g.99768693G>T |
| GRCh37.p13 chr 7 | NC_000007.13:g.99366316G>A |
| GRCh37.p13 chr 7 | NC_000007.13:g.99366316G>C |
| GRCh37.p13 chr 7 | NC_000007.13:g.99366316G>T |
| CYP3A4 RefSeqGene | NG_008421.1:g.20493C>T |
| CYP3A4 RefSeqGene | NG_008421.1:g.20493C>G |
| CYP3A4 RefSeqGene | NG_008421.1:g.20493C>A |
Gene: CYP3A4, cytochrome P450 family 3 subfamily A member 4
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CYP3A4 transcript variant 2 |
NM_001202855.3:c.522-191C… NM_001202855.3:c.522-191C>T |
N/A | Intron Variant |
| CYP3A4 transcript variant 1 | NM_017460.6:c.522-191C>T | N/A | Intron Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | G= | A | C | T |
|---|---|---|---|---|
| GRCh38.p14 chr 7 | NC_000007.14:g.99768693= | NC_000007.14:g.99768693G>A | NC_000007.14:g.99768693G>C | NC_000007.14:g.99768693G>T |
| GRCh37.p13 chr 7 | NC_000007.13:g.99366316= | NC_000007.13:g.99366316G>A | NC_000007.13:g.99366316G>C | NC_000007.13:g.99366316G>T |
| CYP3A4 RefSeqGene | NG_008421.1:g.20493= | NG_008421.1:g.20493C>T | NG_008421.1:g.20493C>G | NG_008421.1:g.20493C>A |
| CYP3A4 transcript variant 2 | NM_001202855.2:c.522-191= | NM_001202855.2:c.522-191C>T | NM_001202855.2:c.522-191C>G | NM_001202855.2:c.522-191C>A |
| CYP3A4 transcript variant 2 | NM_001202855.3:c.522-191= | NM_001202855.3:c.522-191C>T | NM_001202855.3:c.522-191C>G | NM_001202855.3:c.522-191C>A |
| CYP3A4 transcript variant 1 | NM_017460.5:c.522-191= | NM_017460.5:c.522-191C>T | NM_017460.5:c.522-191C>G | NM_017460.5:c.522-191C>A |
| CYP3A4 transcript variant 1 | NM_017460.6:c.522-191= | NM_017460.6:c.522-191C>T | NM_017460.6:c.522-191C>G | NM_017460.6:c.522-191C>A |
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#.
54 SubSNP,
15 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | PHARMGKB_PAAR-UCHI | ss69367647 | May 18, 2007 (127) |
| 2 | CGM_KYOTO | ss76860228 | Dec 06, 2007 (129) |
| 3 | BCMHGSC_JDW | ss93734880 | Mar 25, 2008 (130) |
| 4 | 1000GENOMES | ss112392814 | Jan 25, 2009 (130) |
| 5 | ENSEMBL | ss142725846 | Dec 01, 2009 (131) |
| 6 | 1000GENOMES | ss234093104 | Jul 15, 2010 (132) |
| 7 | EVA-GONL | ss984590784 | Aug 21, 2014 (142) |
| 8 | JMKIDD_LAB | ss1074831852 | Aug 21, 2014 (142) |
| 9 | 1000GENOMES | ss1326340668 | Aug 21, 2014 (142) |
| 10 | DDI | ss1431222546 | Apr 01, 2015 (144) |
| 11 | EVA_GENOME_DK | ss1582324811 | Apr 01, 2015 (144) |
| 12 | EVA_DECODE | ss1594169822 | Apr 01, 2015 (144) |
| 13 | EVA_UK10K_ALSPAC | ss1618800580 | Apr 01, 2015 (144) |
| 14 | EVA_UK10K_TWINSUK | ss1661794613 | Apr 01, 2015 (144) |
| 15 | WEILL_CORNELL_DGM | ss1927851843 | Feb 12, 2016 (147) |
| 16 | ILLUMINA | ss1959035743 | Feb 12, 2016 (147) |
| 17 | JJLAB | ss2024608704 | Sep 14, 2016 (149) |
| 18 | ILLUMINA | ss2711117406 | Nov 08, 2017 (151) |
| 19 | GNOMAD | ss2856772825 | Nov 08, 2017 (151) |
| 20 | AFFY | ss2985413779 | Nov 08, 2017 (151) |
| 21 | AFFY | ss2986046014 | Nov 08, 2017 (151) |
| 22 | SWEGEN | ss3001708529 | Nov 08, 2017 (151) |
| 23 | ILLUMINA | ss3022760858 | Nov 08, 2017 (151) |
| 24 | CSHL | ss3347752870 | Nov 08, 2017 (151) |
| 25 | ILLUMINA | ss3653294881 | Oct 12, 2018 (152) |
| 26 | ILLUMINA | ss3654175399 | Oct 12, 2018 (152) |
| 27 | EVA_DECODE | ss3720302021 | Jul 13, 2019 (153) |
| 28 | ILLUMINA | ss3726465400 | Jul 13, 2019 (153) |
| 29 | ACPOP | ss3734902906 | Jul 13, 2019 (153) |
| 30 | EVA | ss3766925938 | Jul 13, 2019 (153) |
| 31 | PAGE_CC | ss3771386414 | Jul 13, 2019 (153) |
| 32 | KHV_HUMAN_GENOMES | ss3810097362 | Jul 13, 2019 (153) |
| 33 | SGDP_PRJ | ss3867982744 | Apr 26, 2020 (154) |
| 34 | TOPMED | ss4756588016 | Apr 26, 2021 (155) |
| 35 | EVA | ss6241637870 | Oct 31, 2024 (157) |
| 36 | EVA | ss6301281780 | Oct 31, 2024 (157) |
| 37 | EVA | ss6322315048 | Oct 31, 2024 (157) |
| 38 | EVA | ss6328882808 | Oct 31, 2024 (157) |
| 39 | YEGNASUBRAMANIAN_LAB | ss6340796598 | Oct 31, 2024 (157) |
| 40 | EVA | ss6349711475 | Oct 31, 2024 (157) |
| 41 | KOGIC | ss6374331295 | Oct 31, 2024 (157) |
| 42 | GNOMAD | ss6763883802 | Oct 31, 2024 (157) |
| 43 | 1000G_HIGH_COVERAGE | ss8274034043 | Oct 31, 2024 (157) |
| 44 | EVA | ss8375501219 | Oct 31, 2024 (157) |
| 45 | HUGCELL_USP | ss8471004757 | Oct 31, 2024 (157) |
| 46 | 1000G_HIGH_COVERAGE | ss8562816361 | Oct 31, 2024 (157) |
| 47 | SANFORD_IMAGENETICS | ss8624670310 | Oct 31, 2024 (157) |
| 48 | SANFORD_IMAGENETICS | ss8643588386 | Oct 31, 2024 (157) |
| 49 | EVA | ss8823256623 | Oct 31, 2024 (157) |
| 50 | EVA | ss8847323018 | Oct 31, 2024 (157) |
| 51 | EVA | ss8860090128 | Oct 31, 2024 (157) |
| 52 | EVA | ss8972772992 | Oct 31, 2024 (157) |
| 53 | EVA | ss8979835186 | Oct 31, 2024 (157) |
| 54 | EVA | ss8982567054 | Oct 31, 2024 (157) |
| 55 | 1000Genomes | NC_000007.13 - 99366316 | Oct 12, 2018 (152) |
| 56 | 1000Genomes_30X | NC_000007.14 - 99768693 | Oct 31, 2024 (157) |
| 57 | The Avon Longitudinal Study of Parents and Children | NC_000007.13 - 99366316 | Oct 12, 2018 (152) |
| 58 | The Danish reference pan genome | NC_000007.13 - 99366316 | Apr 26, 2020 (154) |
| 59 | gnomAD v4 - Genomes | NC_000007.14 - 99768693 | Oct 31, 2024 (157) |
| 60 | Genome of the Netherlands Release 5 | NC_000007.13 - 99366316 | Apr 26, 2020 (154) |
| 61 | Korean Genome Project 4K | NC_000007.14 - 99768693 | Oct 31, 2024 (157) |
| 62 | Northern Sweden | NC_000007.13 - 99366316 | Jul 13, 2019 (153) |
| 63 | The PAGE Study | NC_000007.14 - 99768693 | Jul 13, 2019 (153) |
| 64 | PharmGKB Aggregated | NC_000007.14 - 99768693 | Apr 26, 2020 (154) |
| 65 | Qatari | NC_000007.13 - 99366316 | Apr 26, 2020 (154) |
| 66 | SGDP_PRJ | NC_000007.13 - 99366316 | Apr 26, 2020 (154) |
| 67 | TopMed | NC_000007.14 - 99768693 | Apr 26, 2021 (155) |
| 68 | UK 10K study - Twins | NC_000007.13 - 99366316 | Oct 12, 2018 (152) |
| 69 | ALFA | NC_000007.14 - 99768693 | Oct 31, 2024 (157) |
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) |
|---|---|
| rs45581939 | Mar 05, 2008 (129) |
| rs62471940 | May 26, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss93734880, ss112392814, ss1594169822 | NC_000007.12:99204251:G:A | NC_000007.14:99768692:G:A | (self) |
| 38354652, 21342322, 8489750, 9527610, 8187771, 9893773, 19999724, 21342322, ss234093104, ss984590784, ss1074831852, ss1326340668, ss1431222546, ss1582324811, ss1618800580, ss1661794613, ss1927851843, ss1959035743, ss2024608704, ss2711117406, ss2856772825, ss2985413779, ss2986046014, ss3001708529, ss3022760858, ss3347752870, ss3653294881, ss3654175399, ss3734902906, ss3766925938, ss3867982744, ss6241637870, ss6301281780, ss6322315048, ss6340796598, ss8375501219, ss8624670310, ss8643588386, ss8823256623, ss8847323018, ss8972772992, ss8979835186, ss8982567054 | NC_000007.13:99366315:G:A | NC_000007.14:99768692:G:A | (self) |
| 50342296, 290785711, 24183193, 607883, 11761, 593965575, 8011320081, ss3720302021, ss3726465400, ss3771386414, ss3810097362, ss4756588016, ss6328882808, ss6374331295, ss6763883802, ss8274034043, ss8471004757, ss8562816361, ss8860090128 | NC_000007.14:99768692:G:A | NC_000007.14:99768692:G:A | (self) |
| ss69367647, ss76860228, ss142725846 | NT_007933.15:37399158:G:A | NC_000007.14:99768692:G:A | (self) |
| ss6349711475 | NC_000007.13:99366315:G:C | NC_000007.14:99768692:G:C | |
| ss6349711475 | NC_000007.13:99366315:G:T | NC_000007.14:99768692:G:T |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
80
citations for rs35599367
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 20386561 | Intronic polymorphism in CYP3A4 affects hepatic expression and response to statin drugs. | Wang D et al. | 2011 | The pharmacogenomics journal |
| 21289622 | Pharmacogenomics of the RNA world: structural RNA polymorphisms in drug therapy. | Sadee W et al. | 2011 | Clinical pharmacology and therapeutics |
| 21903774 | A new functional CYP3A4 intron 6 polymorphism significantly affects tacrolimus pharmacokinetics in kidney transplant recipients. | Elens L et al. | 2011 | Clinical chemistry |
| 21946898 | Novel CYP3A4 intron 6 single nucleotide polymorphism is associated with simvastatin-mediated cholesterol reduction in the Rotterdam Study. | Elens L et al. | 2011 | Pharmacogenetics and genomics |
| 22388796 | The new CYP3A4 intron 6 C>T polymorphism (CYP3A4*22) is associated with an increased risk of delayed graft function and worse renal function in cyclosporine-treated kidney transplant patients. | Elens L et al. | 2012 | Pharmacogenetics and genomics |
| 23104099 | Multiple genetic variants predict steady-state nevirapine clearance in HIV-infected Cambodians. | Bertrand J et al. | 2012 | Pharmacogenetics and genomics |
| 23252948 | CYP3A4*22: promising newly identified CYP3A4 variant allele for personalizing pharmacotherapy. | Elens L et al. | 2013 | Pharmacogenomics |
| 23501331 | Effects of atorvastatin on CYP3A4 and CYP3A5 mRNA expression in mononuclear cells and CYP3A activity in hypercholeresterolemic patients. | Willrich MA et al. | 2013 | Clinica chimica acta; international journal of clinical chemistry |
| 23574377 | Severe acute nephrotoxicity in a kidney transplant patient despite low tacrolimus levels: a possible interaction between donor and recipient genetic polymorphisms. | Quaglia M et al. | 2013 | Journal of clinical pharmacy and therapeutics |
| 23633119 | Multidrug resistance-associated protein 2 (MRP2/ABCC2) haplotypes significantly affect the pharmacokinetics of tacrolimus in kidney transplant recipients. | Ogasawara K et al. | 2013 | Clinical pharmacokinetics |
| 23640974 | CYP3A4*22 genotype and systemic exposure affect paclitaxel-induced neurotoxicity. | de Graan AJ et al. | 2013 | Clinical cancer research |
| 23876492 | Clinical and pharmacogenetic predictors of circulating atorvastatin and rosuvastatin concentrations in routine clinical care. | DeGorter MK et al. | 2013 | Circulation. Cardiovascular genetics |
| 23922006 | PharmGKB summary: cyclosporine and tacrolimus pathways. | Barbarino JM et al. | 2013 | Pharmacogenetics and genomics |
| 23974086 | Effect of CYP3A4*22, POR*28, and PPARA rs4253728 on sirolimus in vitro metabolism and trough concentrations in kidney transplant recipients. | Woillard JB et al. | 2013 | Clinical chemistry |
| 24118098 | Clinical implementation of pharmacogenetics in kidney transplantation: calcineurin inhibitors in the starting blocks. | Elens L et al. | 2014 | British journal of clinical pharmacology |
| 24444408 | CYP3A5 and CYP3A4, but not ABCB1 polymorphisms affect tacrolimus dose-adjusted trough concentrations in kidney transplant recipients. | Kurzawski M et al. | 2014 | Pharmacogenomics |
| 24598718 | Identification of the effect of multiple polymorphisms on the pharmacokinetics of simvastatin and simvastatin acid using a population-modeling approach. | Tsamandouras N et al. | 2014 | Clinical pharmacology and therapeutics |
| 24950369 | CYP3A4*22 (c.522-191 C>T; rs35599367) is associated with lopinavir pharmacokinetics in HIV-positive adults. | Olagunju A et al. | 2014 | Pharmacogenetics and genomics |
| 25271728 | Which Genetic Determinants Should be Considered for Tacrolimus Dose Optimization in Kidney Transplantation? A Combined Analysis of Genes Affecting the CYP3A Locus. | Bruckmueller H et al. | 2015 | Therapeutic drug monitoring |
| 25690039 | Personalization of the immunosuppressive treatment in renal transplant recipients: the great challenge in "omics" medicine. | Zaza G et al. | 2015 | International journal of molecular sciences |
| 25741362 | Use of pharmacogenomics in pediatric renal transplant recipients. | Medeiros M et al. | 2015 | Frontiers in genetics |
| 26058918 | Genetic determinants of fetal opiate exposure and risk of neonatal abstinence syndrome: Knowledge deficits and prospects for future research. | Lewis T et al. | 2015 | Clinical pharmacology and therapeutics |
| 26485092 | Genomewide Association Study of Tacrolimus Concentrations in African American Kidney Transplant Recipients Identifies Multiple CYP3A5 Alleles. | Oetting WS et al. | 2016 | American journal of transplantation |
| 26488616 | CYP3A4 intronic SNP rs35599367 (CYP3A4*22) alters RNA splicing. | Wang D et al. | 2016 | Pharmacogenetics and genomics |
| 26516523 | Pharmacogenetics of analgesic drugs. | Cregg R et al. | 2013 | British journal of pain |
| 26667830 | Genotype-guided tacrolimus dosing in African-American kidney transplant recipients. | Sanghavi K et al. | 2017 | The pharmacogenomics journal |
| 26715213 | Comprehensive Pharmacokinetic, Pharmacodynamic and Pharmacogenetic Evaluation of Once-Daily Efavirenz 400 and 600 mg in Treatment-Naïve HIV-Infected Patients at 96 Weeks: Results of the ENCORE1 Study. | Dickinson L et al. | 2016 | Clinical pharmacokinetics |
| 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 |
| 26991336 | The impact of genetic polymorphisms on the pharmacokinetics of efavirenz in African children. | Bienczak A et al. | 2016 | British journal of clinical pharmacology |
| 27171561 | Liver Function Test Abnormalities in Depressed Patients Treated with Antidepressants: A Real-World Systematic Observational Study in Psychiatric Settings. | Voican CS et al. | 2016 | PloS one |
| 27549341 | Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in postmenopausal patients with breast cancer. | Hertz DL et al. | 2017 | The pharmacogenomics journal |
| 27564227 | Clinical effects of single nucleotide polymorphisms on drug-related genes in Japanese metastatic renal cell carcinoma patients treated with sunitinib. | Numakura K et al. | 2017 | Anti-cancer drugs |
| 27707991 | Effect of diurnal variation, CYP2B6 genotype and age on the pharmacokinetics of nevirapine in African children. | Bienczak A et al. | 2017 | The Journal of antimicrobial chemotherapy |
| 27736846 | Genotypes of CYP2C8 and FGD4 and their association with peripheral neuropathy or early dose reduction in paclitaxel-treated breast cancer patients. | Lam SW et al. | 2016 | British journal of cancer |
| 27757045 | Pharmacogenomics of statins: understanding susceptibility to adverse effects. | Kitzmiller JP et al. | 2016 | Pharmacogenomics and personalized medicine |
| 27780519 | International Congress of Drug Therapy in HIV Infection 23-26 October 2016, Glasgow, UK. | 2016 | Journal of the International AIDS Society | |
| 28229376 | The Pharmacogenetics of Tacrolimus in Corticosteroid-Sparse Pediatric and Adult Kidney Transplant Recipients. | Madsen MJ et al. | 2017 | Drugs in R&D |
| 28346074 | Germline genetic predictors of aromatase inhibitor concentrations, estrogen suppression and drug efficacy and toxicity in breast cancer patients. | Hertz DL et al. | 2017 | Pharmacogenomics |
| 28727815 | Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer. | Pascual T et al. | 2017 | PloS one |
| 28869324 | Mycophenolate mofetil-related leukopenia in children and young adults following kidney transplantation: Influence of genes and drugs. | Varnell CD et al. | 2017 | Pediatric transplantation |
| 29256966 | Influence of donor liver CYP3A4*20 loss-of-function genotype on tacrolimus pharmacokinetics in transplanted patients. | Gómez-Bravo MA et al. | 2018 | Pharmacogenetics and genomics |
| 29623639 | Pharmacogenetics of Opioid Use Disorder Treatment. | Crist RC et al. | 2018 | CNS drugs |
| 29950882 | CYP3A and CYP2C19 activity in urine in relation to CYP3A4, CYP3A5, and CYP2C19 polymorphisms in Russian peptic ulcer patients taking omeprazole. | Denisenko NP et al. | 2018 | Pharmacogenomics and personalized medicine |
| 29998574 | CYP3A4*22 Impairs the Elimination of Ticagrelor, But Has No Significant Effect on the Bioactivation of Clopidogrel or Prasugrel. | Holmberg MT et al. | 2019 | Clinical pharmacology and therapeutics |
| 30801552 | Genetic Variants Associated With Immunosuppressant Pharmacokinetics and Adverse Effects in the DeKAF Genomics Genome-wide Association Studies. | Oetting WS et al. | 2019 | Transplantation |
| 30815689 | Rifampicin effect on intracellular and plasma pharmacokinetics of tenofovir alafenamide. | Cerrone M et al. | 2019 | The Journal of antimicrobial chemotherapy |
| 30953600 | Tacrolimus troughs and genetic determinants of metabolism in kidney transplant recipients: A comparison of four ancestry groups. | Mohamed ME et al. | 2019 | American journal of transplantation |
| 31044564 | A risk assessment model of acute liver allograft rejection by genetic polymorphism of CD276. | Yu X et al. | 2019 | Molecular genetics & genomic medicine |
| 31086207 | Implications of genetic variation of common Drug Metabolizing Enzymes and ABC Transporters among the Pakistani Population. | Afsar NA et al. | 2019 | Scientific reports |
| 31102151 | Genotyping and phenotyping CYP3A4\CYP3A5: no association with antiplatelet effect of clopidogrel. | Mirzaev KB et al. | 2019 | Molecular biology reports |
| 31617197 | Effect of CYP3A4, CYP3A5, ABCB1 Gene Polymorphisms on Rivaroxaban Pharmacokinetics in Patients Undergoing Total Hip and Knee Replacement Surgery. | Sychev D et al. | 2019 | High blood pressure & cardiovascular prevention |
| 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 |
| 32256016 | Importance of genetic polymorphisms in liver transplantation outcomes. | Kelava T et al. | 2020 | World journal of gastroenterology |
| 32351149 | Predictive pharmacogenetic biomarkers for breast cancer recurrence prevention by simvastatin. | Ahern TP et al. | 2020 | Acta oncologica (Stockholm, Sweden) |
| 32459809 | Unique insights from ClinicalTrials.gov by mining protein mutations and RSids in addition to applying the Human Phenotype Ontology. | Alag S et al. | 2020 | PloS one |
| 33217013 | Evaluation of clinical and genetic factors in the population pharmacokinetics of carbamazepine. | Yip VLM et al. | 2021 | British journal of clinical pharmacology |
| 33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
| 33622083 | Using the CYP3A Activity Evaluation to Predict the Efficacy and Safety of Diazepam in Patients With Alcohol Withdrawal Syndrome. | Skryabin VY et al. | 2022 | Journal of pharmacy practice |
| 33804537 | Pharmacogenetics of Carbamazepine and Valproate: Focus on Polymorphisms of Drug Metabolizing Enzymes and Transporters. | Iannaccone T et al. | 2021 | Pharmaceuticals (Basel, Switzerland) |
| 33805706 | SLCO1B1 Phenotype and CYP3A5 Polymorphism Significantly Affect Atorvastatin Bioavailability. | Zubiaur P et al. | 2021 | Journal of personalized medicine |
| 33829662 | Genetic variants related to successful migraine prophylaxis with verapamil. | Cutrer FM et al. | 2021 | Molecular genetics & genomic medicine |
| 33995083 | Dexketoprofen Pharmacokinetics is not Significantly Altered by Genetic Polymorphism. | Mejía-Abril G et al. | 2021 | Frontiers in pharmacology |
| 34262462 | Pharmacogenomics of Impaired Tyrosine Kinase Inhibitor Response: Lessons Learned From Chronic Myelogenous Leukemia. | Kaehler M et al. | 2021 | Frontiers in pharmacology |
| 34306041 | CYP3A4(∗)22 Genotyping in Clinical Practice: Ready for Implementation? | Mulder TAM et al. | 2021 | Frontiers in genetics |
| 34382722 | Profiling of warfarin pharmacokinetics-associated genetic variants: Black Africans portray unique genetic markers important for an African specific warfarin pharmacogenetics-dosing algorithm. | Ndadza A et al. | 2021 | Journal of thrombosis and haemostasis |
| 34385834 | Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process. | Borro M et al. | 2021 | Pharmacogenomics and personalized medicine |
| 34690761 | Effects of Cytochrome P450 and Transporter Polymorphisms on the Bioavailability and Safety of Dutasteride and Tamsulosin. | Villapalos-García G et al. | 2021 | Frontiers in pharmacology |
| 34958284 | Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes. | Muyambo S et al. | 2022 | Omics |
| 34974452 | The Impact of Donor and Recipient Genetic Variation on Outcomes After Solid Organ Transplantation: A Scoping Review and Future Perspectives. | Li Y et al. | 2022 | Transplantation |
| 35335935 | Role of Pharmacogenetics in the Treatment of Acute Myeloid Leukemia: Systematic Review and Future Perspectives. | Pinto-Merino Á et al. | 2022 | Pharmaceutics |
| 35471917 | CYP3A4*22 and CYP3A5*3 impact efficacy and safety of diazepam in patients with alcohol withdrawal syndrome. | Skryabin VY et al. | 2023 | Nordic journal of psychiatry |
| 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 |
| 35839255 | Association of cytochromes P450 3A4*22 and 3A5*3 genotypes and polymorphism with response to simvastatin in hypercholesterolemia patients. | Elalem EG et al. | 2022 | PloS one |
| 35892315 | Pharmacogenetics of taxane-induced neurotoxicity in breast cancer: Systematic review and meta-analysis. | Guijosa A et al. | 2022 | Clinical and translational science |
| 36065758 | CYP2C8*3 and *4 define CYP2C8 phenotype: An approach with the substrate cinitapride. | Campodónico DM et al. | 2022 | Clinical and translational science |
| 36246675 | Effect of CYP3A4 and PPARA polymorphism on concentration-to-dose ratio and adverse effects of tacrolimus in Pakistani liver transplant recipients. | Azam F et al. | 2022 | Pakistan journal of medical sciences |
| 36256705 | Influence of ABCB1, CYP3A5 and CYP3A4 gene polymorphisms on prothrombin time and the residual equilibrium concentration of rivaroxaban in patients with non-valvular atrial fibrillation in real clinical practice. | Sychev DA et al. | 2022 | Pharmacogenetics and genomics |
| 36827667 | Risk Factors for Rivaroxaban-Related Bleeding Events-Possible Role of Pharmacogenetics: Case Series. | Šimičević L et al. | 2023 | Pharmacy (Basel, Switzerland) |
| 37228580 | Immunogenetics and pharmacogenetics of allergic asthma in Africa. | Mabelane T et al. | 2023 | Frontiers in allergy |
| 37251592 | Genetic variations that influence paclitaxel pharmacokinetics and intracellular effects that may contribute to chemotherapy-induced neuropathy: A narrative review. | Johnson KB et al. | 2023 | Frontiers in pain research (Lausanne, Switzerland) |
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.