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.
rs762551
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr15:74749576 (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>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.324489 (85889/264690, TOPMED)C=0.327463 (48807/149046, GnomAD_genomes)C=0.33618 (26455/78694, PAGE_STUDY) (+ 20 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CYP1A2 : Intron Variant
- Publications
- 189 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 | 68100 | C=0.31860 | A=0.68140, G=0.00000 | 0.11072 | 0.47351 | 0.415771 | 32 |
| European | Sub | 55216 | C=0.29607 | A=0.70393, G=0.00000 | 0.09222 | 0.500072 | 0.407708 | 8 |
| African | Sub | 5624 | C=0.4404 | A=0.5596, G=0.0000 | 0.211593 | 0.330725 | 0.457681 | 8 |
| African Others | Sub | 178 | C=0.433 | A=0.567, G=0.000 | 0.179775 | 0.314607 | 0.505618 | 0 |
| African American | Sub | 5446 | C=0.4407 | A=0.5593, G=0.0000 | 0.212633 | 0.331252 | 0.456115 | 9 |
| Asian | Sub | 138 | C=0.406 | A=0.594, G=0.000 | 0.217391 | 0.405797 | 0.376812 | 2 |
| East Asian | Sub | 116 | C=0.431 | A=0.569, G=0.000 | 0.224138 | 0.362069 | 0.413793 | 1 |
| Other Asian | Sub | 22 | C=0.27 | A=0.73, G=0.00 | 0.181818 | 0.636364 | 0.181818 | 2 |
| Latin American 1 | Sub | 122 | C=0.352 | A=0.648, G=0.000 | 0.229508 | 0.52459 | 0.245902 | 8 |
| Latin American 2 | Sub | 668 | C=0.311 | A=0.689, G=0.000 | 0.122754 | 0.5 | 0.377246 | 3 |
| South Asian | Sub | 4890 | C=0.4315 | A=0.5685, G=0.0000 | 0.19182 | 0.328834 | 0.479346 | 1 |
| Other | Sub | 1442 | C=0.3155 | A=0.6845, G=0.0000 | 0.124827 | 0.493759 | 0.381415 | 6 |
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=0.324489 | A=0.675511 |
| gnomAD v4 - Genomes | Global | Study-wide | 149046 | C=0.327463 | A=0.672537 |
| gnomAD v4 - Genomes | European | Sub | 78568 | C=0.29131 | A=0.70869 |
| gnomAD v4 - Genomes | African | Sub | 41436 | C=0.39473 | A=0.60527 |
| gnomAD v4 - Genomes | American | Sub | 15286 | C=0.29386 | A=0.70614 |
| gnomAD v4 - Genomes | East Asian | Sub | 5170 | C=0.3487 | A=0.6513 |
| gnomAD v4 - Genomes | South Asian | Sub | 4822 | C=0.4322 | A=0.5678 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3470 | C=0.3144 | A=0.6856 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 294 | C=0.316 | A=0.684 |
| The PAGE Study | Global | Study-wide | 78694 | C=0.33618 | A=0.66382 |
| The PAGE Study | AfricanAmerican | Sub | 32512 | C=0.39505 | A=0.60495 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.27243 | A=0.72757 |
| The PAGE Study | Asian | Sub | 8316 | C=0.3555 | A=0.6445 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=0.2771 | A=0.7229 |
| The PAGE Study | NativeHawaiian | Sub | 4532 | C=0.2182 | A=0.7818 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.3281 | A=0.6719 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.3477 | A=0.6523 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.2694 | A=0.7306 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.2200 | A=0.7800 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.2952 | A=0.7048 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.397 | A=0.603 |
| 38KJPN | JAPANESE | Study-wide | 77444 | C=0.36406 | A=0.63594 |
| Allele Frequency Aggregator | Total | Global | 68100 | C=0.31860 | A=0.68140, G=0.00000 |
| Allele Frequency Aggregator | European | Sub | 55216 | C=0.29607 | A=0.70393, G=0.00000 |
| Allele Frequency Aggregator | African | Sub | 5624 | C=0.4404 | A=0.5596, G=0.0000 |
| Allele Frequency Aggregator | South Asian | Sub | 4890 | C=0.4315 | A=0.5685, G=0.0000 |
| Allele Frequency Aggregator | Other | Sub | 1442 | C=0.3155 | A=0.6845, G=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 668 | C=0.311 | A=0.689, G=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 138 | C=0.406 | A=0.594, G=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 122 | C=0.352 | A=0.648, G=0.000 |
| Korean Genome Project 4K | KOREAN | Study-wide | 7230 | C=0.3679 | A=0.6321 |
| 1000Genomes_30X | Global | Study-wide | 6404 | C=0.3657 | A=0.6343 |
| 1000Genomes_30X | African | Sub | 1786 | C=0.4395 | A=0.5605 |
| 1000Genomes_30X | Europe | Sub | 1266 | C=0.3207 | A=0.6793 |
| 1000Genomes_30X | South Asian | Sub | 1202 | C=0.4517 | A=0.5483 |
| 1000Genomes_30X | East Asian | Sub | 1170 | C=0.3222 | A=0.6778 |
| 1000Genomes_30X | American | Sub | 980 | C=0.236 | A=0.764 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.3702 | A=0.6298 |
| 1000Genomes | African | Sub | 1322 | C=0.4380 | A=0.5620 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.3274 | A=0.6726 |
| 1000Genomes | Europe | Sub | 1006 | C=0.3201 | A=0.6799 |
| 1000Genomes | South Asian | Sub | 978 | C=0.465 | A=0.535 |
| 1000Genomes | American | Sub | 694 | C=0.242 | A=0.758 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.3333 | A=0.6667 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.2761 | A=0.7239 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.2567 | A=0.7433 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.3543 | A=0.6457, G=0.0000 |
| HapMap | Global | Study-wide | 1892 | C=0.4101 | A=0.5899 |
| HapMap | American | Sub | 770 | C=0.362 | A=0.638 |
| HapMap | African | Sub | 692 | C=0.475 | A=0.525 |
| HapMap | Asian | Sub | 254 | C=0.402 | A=0.598 |
| HapMap | Europe | Sub | 176 | C=0.375 | A=0.625 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.3575 | A=0.6425 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.252 | A=0.748 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 788 | C=0.381 | A=0.619 |
| CNV burdens in cranial meningiomas | CRM | Sub | 788 | C=0.381 | A=0.619 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.257 | A=0.743 |
| SGDP_PRJ | Global | Study-wide | 488 | C=0.297 | A=0.703 |
| Qatari | Global | Study-wide | 216 | C=0.310 | A=0.690 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 210 | C=0.286 | A=0.714 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 86 | C=0.47 | A=0.53 |
| Siberian | Global | Study-wide | 46 | C=0.17 | A=0.83 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.28 | A=0.72 |
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 15 | NC_000015.10:g.74749576C>A |
| GRCh38.p14 chr 15 | NC_000015.10:g.74749576C>G |
| GRCh37.p13 chr 15 | NC_000015.9:g.75041917C>A |
| GRCh37.p13 chr 15 | NC_000015.9:g.75041917C>G |
| CYP1A1-CYP1A2 RefSeqGene | NG_008431.2:g.32035C>A |
| CYP1A1-CYP1A2 RefSeqGene | NG_008431.2:g.32035C>G |
| CYP1A2 RefSeqGene (LRG_1274) | NG_061543.1:g.5732C>A |
| CYP1A2 RefSeqGene (LRG_1274) | NG_061543.1:g.5732C>G |
| LOC110467516 genomic region | NG_055245.1:g.5246C>A |
| LOC110467516 genomic region | NG_055245.1:g.5246C>G |
Gene: CYP1A2, cytochrome P450 family 1 subfamily A member 2
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CYP1A2 transcript | NM_000761.5:c.-9-154C>A | 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.
Allele: A (allele ID:
505375
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000607978.1 | not specified | Likely-Benign |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | A | G |
|---|---|---|---|
| GRCh38.p14 chr 15 | NC_000015.10:g.74749576= | NC_000015.10:g.74749576C>A | NC_000015.10:g.74749576C>G |
| GRCh37.p13 chr 15 | NC_000015.9:g.75041917= | NC_000015.9:g.75041917C>A | NC_000015.9:g.75041917C>G |
| CYP1A1-CYP1A2 RefSeqGene | NG_008431.2:g.32035= | NG_008431.2:g.32035C>A | NG_008431.2:g.32035C>G |
| CYP1A2 RefSeqGene (LRG_1274) | NG_061543.1:g.5732= | NG_061543.1:g.5732C>A | NG_061543.1:g.5732C>G |
| LOC110467516 genomic region | NG_055245.1:g.5246= | NG_055245.1:g.5246C>A | NG_055245.1:g.5246C>G |
| CYP1A2 transcript | NM_000761.3:c.-9-154= | NM_000761.3:c.-9-154C>A | NM_000761.3:c.-9-154C>G |
| CYP1A2 transcript | NM_000761.5:c.-9-154= | NM_000761.5:c.-9-154C>A | NM_000761.5:c.-9-154C>G |
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#.
140 SubSNP,
23 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TSC-CSHL | ss136311 | Oct 05, 2000 (86) |
| 2 | SC_JCM | ss3465118 | Sep 28, 2001 (100) |
| 3 | SNP500CANCER | ss5586402 | Mar 31, 2003 (113) |
| 4 | RIKENSNPRC | ss6312283 | Feb 20, 2003 (111) |
| 5 | CSHL-HAPMAP | ss16693658 | Feb 27, 2004 (120) |
| 6 | CSHL-HAPMAP | ss17550994 | Feb 27, 2004 (120) |
| 7 | CSHL-HAPMAP | ss19332187 | Feb 27, 2004 (120) |
| 8 | SSAHASNP | ss21294849 | Apr 05, 2004 (121) |
| 9 | PERLEGEN | ss23424783 | Sep 20, 2004 (123) |
| 10 | NEBERTDW | ss28515502 | Sep 24, 2004 (126) |
| 11 | ABI | ss43689890 | Mar 11, 2006 (126) |
| 12 | SI_EXO | ss52082171 | Oct 16, 2006 (127) |
| 13 | EGP_SNPS | ss70354977 | May 18, 2007 (127) |
| 14 | ILLUMINA | ss75249123 | Dec 06, 2007 (129) |
| 15 | HGSV | ss77249500 | Dec 06, 2007 (129) |
| 16 | HGSV | ss78138122 | Dec 06, 2007 (129) |
| 17 | HGSV | ss81867625 | Dec 14, 2007 (130) |
| 18 | BCMHGSC_JDW | ss90212964 | Mar 24, 2008 (129) |
| 19 | HUMANGENOME_JCVI | ss96771624 | Feb 04, 2009 (130) |
| 20 | 1000GENOMES | ss108951538 | Jan 23, 2009 (130) |
| 21 | ILLUMINA-UK | ss118287259 | Feb 14, 2009 (130) |
| 22 | KRIBB_YJKIM | ss119367021 | Dec 01, 2009 (131) |
| 23 | ENSEMBL | ss132421760 | Dec 01, 2009 (131) |
| 24 | ENSEMBL | ss136431794 | Dec 01, 2009 (131) |
| 25 | ILLUMINA | ss154435645 | Dec 01, 2009 (131) |
| 26 | GMI | ss156737929 | Dec 01, 2009 (131) |
| 27 | ILLUMINA | ss159610671 | Dec 01, 2009 (131) |
| 28 | COMPLETE_GENOMICS | ss168323693 | Jul 04, 2010 (132) |
| 29 | COMPLETE_GENOMICS | ss171334629 | Jul 04, 2010 (132) |
| 30 | ILLUMINA | ss174459001 | Jul 04, 2010 (132) |
| 31 | BUSHMAN | ss201038387 | Jul 04, 2010 (132) |
| 32 | BCM-HGSC-SUB | ss207276456 | Jul 04, 2010 (132) |
| 33 | 1000GENOMES | ss211634441 | Jul 14, 2010 (132) |
| 34 | 1000GENOMES | ss226976365 | Jul 14, 2010 (132) |
| 35 | 1000GENOMES | ss236837905 | Jul 15, 2010 (132) |
| 36 | 1000GENOMES | ss243214195 | Jul 15, 2010 (132) |
| 37 | ILLUMINA | ss244310274 | Jul 04, 2010 (132) |
| 38 | BL | ss255113784 | May 09, 2011 (134) |
| 39 | GMI | ss282318919 | May 04, 2012 (137) |
| 40 | GMI | ss286982960 | Apr 25, 2013 (138) |
| 41 | PJP | ss291752903 | May 09, 2011 (134) |
| 42 | ILLUMINA | ss410811995 | Sep 17, 2011 (135) |
| 43 | ILLUMINA | ss537492692 | Sep 08, 2015 (146) |
| 44 | TISHKOFF | ss564579142 | Apr 25, 2013 (138) |
| 45 | SSMP | ss660315791 | Apr 25, 2013 (138) |
| 46 | ILLUMINA | ss833121641 | Jul 13, 2019 (153) |
| 47 | EVA-GONL | ss991955442 | Aug 21, 2014 (142) |
| 48 | JMKIDD_LAB | ss1080250552 | Aug 21, 2014 (142) |
| 49 | 1000GENOMES | ss1354127376 | Aug 21, 2014 (142) |
| 50 | DDI | ss1427677612 | Apr 01, 2015 (144) |
| 51 | EVA_GENOME_DK | ss1577703183 | Apr 01, 2015 (144) |
| 52 | EVA_UK10K_ALSPAC | ss1633356822 | Apr 01, 2015 (144) |
| 53 | EVA_UK10K_TWINSUK | ss1676350855 | Apr 01, 2015 (144) |
| 54 | EVA_DECODE | ss1695981777 | Apr 01, 2015 (144) |
| 55 | EVA_SVP | ss1713502765 | Apr 01, 2015 (144) |
| 56 | HAMMER_LAB | ss1808277882 | Sep 08, 2015 (146) |
| 57 | WEILL_CORNELL_DGM | ss1935358592 | Feb 12, 2016 (147) |
| 58 | ILLUMINA | ss1959626385 | Feb 12, 2016 (147) |
| 59 | GENOMED | ss1968147765 | Jul 19, 2016 (147) |
| 60 | JJLAB | ss2028461525 | Sep 14, 2016 (149) |
| 61 | USC_VALOUEV | ss2156868807 | Dec 20, 2016 (150) |
| 62 | HUMAN_LONGEVITY | ss2208164850 | Dec 20, 2016 (150) |
| 63 | SYSTEMSBIOZJU | ss2628725575 | Nov 08, 2017 (151) |
| 64 | ILLUMINA | ss2633251310 | Nov 08, 2017 (151) |
| 65 | ILLUMINA | ss2635059543 | Nov 08, 2017 (151) |
| 66 | GRF | ss2701347563 | Nov 08, 2017 (151) |
| 67 | GNOMAD | ss2936801958 | Nov 08, 2017 (151) |
| 68 | AFFY | ss2985046785 | Nov 08, 2017 (151) |
| 69 | AFFY | ss2985680243 | Nov 08, 2017 (151) |
| 70 | SWEGEN | ss3013550582 | Nov 08, 2017 (151) |
| 71 | ILLUMINA | ss3021649405 | Nov 08, 2017 (151) |
| 72 | BIOINF_KMB_FNS_UNIBA | ss3028055315 | Nov 08, 2017 (151) |
| 73 | CSIRBIOHTS | ss3029638391 | Nov 08, 2017 (151) |
| 74 | CSHL | ss3351189075 | Nov 08, 2017 (151) |
| 75 | ILLUMINA | ss3627401422 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3638095672 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3643079190 | Oct 12, 2018 (152) |
| 78 | URBANLAB | ss3650391890 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3652051093 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3653818979 | Oct 12, 2018 (152) |
| 81 | EGCUT_WGS | ss3680697613 | Jul 13, 2019 (153) |
| 82 | EVA_DECODE | ss3698219467 | Jul 13, 2019 (153) |
| 83 | ILLUMINA | ss3725514473 | Jul 13, 2019 (153) |
| 84 | ACPOP | ss3741066416 | Jul 13, 2019 (153) |
| 85 | EVA | ss3753294168 | Jul 13, 2019 (153) |
| 86 | PAGE_CC | ss3771841897 | Jul 13, 2019 (153) |
| 87 | PACBIO | ss3787894060 | Jul 13, 2019 (153) |
| 88 | PACBIO | ss3792898501 | Jul 13, 2019 (153) |
| 89 | PACBIO | ss3797783102 | Jul 13, 2019 (153) |
| 90 | KHV_HUMAN_GENOMES | ss3818599972 | Jul 13, 2019 (153) |
| 91 | EVA | ss3834317586 | Apr 27, 2020 (154) |
| 92 | EVA | ss3840758303 | Apr 27, 2020 (154) |
| 93 | EVA | ss3846248060 | Apr 27, 2020 (154) |
| 94 | SGDP_PRJ | ss3883259787 | Apr 27, 2020 (154) |
| 95 | KRGDB | ss3932477510 | Apr 27, 2020 (154) |
| 96 | KOGIC | ss3976480995 | Apr 27, 2020 (154) |
| 97 | FSA-LAB | ss3984077386 | Apr 27, 2021 (155) |
| 98 | EVA | ss3984704001 | Apr 27, 2021 (155) |
| 99 | EVA | ss3985727048 | Apr 27, 2021 (155) |
| 100 | EVA | ss3986656448 | Apr 27, 2021 (155) |
| 101 | EVA | ss4017710716 | Apr 27, 2021 (155) |
| 102 | TOPMED | ss4997226222 | Apr 27, 2021 (155) |
| 103 | TOMMO_GENOMICS | ss6157347003 | Nov 01, 2024 (157) |
| 104 | EVA | ss6205742216 | Nov 01, 2024 (157) |
| 105 | EVA | ss6269305188 | Nov 01, 2024 (157) |
| 106 | EVA | ss6315157305 | Nov 01, 2024 (157) |
| 107 | EVA | ss6322017914 | Nov 01, 2024 (157) |
| 108 | EVA | ss6322526136 | Nov 01, 2024 (157) |
| 109 | EVA | ss6327629779 | Nov 01, 2024 (157) |
| 110 | EVA | ss6333023118 | Nov 01, 2024 (157) |
| 111 | YEGNASUBRAMANIAN_LAB | ss6346203322 | Nov 01, 2024 (157) |
| 112 | EVA | ss6349896116 | Nov 01, 2024 (157) |
| 113 | EVA | ss6350085785 | Nov 01, 2024 (157) |
| 114 | KOGIC | ss6392444785 | Nov 01, 2024 (157) |
| 115 | EVA | ss6404138833 | Nov 01, 2024 (157) |
| 116 | GNOMAD | ss6981064288 | Nov 01, 2024 (157) |
| 117 | TOMMO_GENOMICS | ss8216965599 | Nov 01, 2024 (157) |
| 118 | 1000G_HIGH_COVERAGE | ss8299021715 | Nov 01, 2024 (157) |
| 119 | EVA | ss8420300636 | Nov 01, 2024 (157) |
| 120 | HUGCELL_USP | ss8492692946 | Nov 01, 2024 (157) |
| 121 | EVA | ss8511483231 | Nov 01, 2024 (157) |
| 122 | 1000G_HIGH_COVERAGE | ss8600713819 | Nov 01, 2024 (157) |
| 123 | EVA | ss8624054966 | Nov 01, 2024 (157) |
| 124 | SANFORD_IMAGENETICS | ss8624365246 | Nov 01, 2024 (157) |
| 125 | SANFORD_IMAGENETICS | ss8657836146 | Nov 01, 2024 (157) |
| 126 | TOMMO_GENOMICS | ss8771002566 | Nov 01, 2024 (157) |
| 127 | EVA | ss8800195017 | Nov 01, 2024 (157) |
| 128 | YY_MCH | ss8815479399 | Nov 01, 2024 (157) |
| 129 | EVA | ss8828426685 | Nov 01, 2024 (157) |
| 130 | EVA | ss8847451976 | Nov 01, 2024 (157) |
| 131 | EVA | ss8847749760 | Nov 01, 2024 (157) |
| 132 | EVA | ss8848407137 | Nov 01, 2024 (157) |
| 133 | EVA | ss8851361370 | Nov 01, 2024 (157) |
| 134 | EVA | ss8876549165 | Nov 01, 2024 (157) |
| 135 | EVA | ss8949253594 | Nov 01, 2024 (157) |
| 136 | EVA | ss8979466989 | Nov 01, 2024 (157) |
| 137 | EVA | ss8981325940 | Nov 01, 2024 (157) |
| 138 | EVA | ss8981789406 | Nov 01, 2024 (157) |
| 139 | EVA | ss8981789407 | Nov 01, 2024 (157) |
| 140 | EVA | ss8982251121 | Nov 01, 2024 (157) |
| 141 | 1000Genomes | NC_000015.9 - 75041917 | Oct 12, 2018 (152) |
| 142 | 1000Genomes_30X | NC_000015.10 - 74749576 | Nov 01, 2024 (157) |
| 143 | The Avon Longitudinal Study of Parents and Children | NC_000015.9 - 75041917 | Oct 12, 2018 (152) |
| 144 | Genetic variation in the Estonian population | NC_000015.9 - 75041917 | Oct 12, 2018 (152) |
| 145 | The Danish reference pan genome | NC_000015.9 - 75041917 | Apr 27, 2020 (154) |
| 146 | gnomAD v4 - Genomes | NC_000015.10 - 74749576 | Nov 01, 2024 (157) |
| 147 | Genome of the Netherlands Release 5 | NC_000015.9 - 75041917 | Apr 27, 2020 (154) |
| 148 | HapMap | NC_000015.10 - 74749576 | Apr 27, 2020 (154) |
| 149 | KOREAN population from KRGDB | NC_000015.9 - 75041917 | Apr 27, 2020 (154) |
| 150 | Korean Genome Project | NC_000015.10 - 74749576 | Apr 27, 2020 (154) |
| 151 | Korean Genome Project 4K | NC_000015.10 - 74749576 | Nov 01, 2024 (157) |
| 152 | Northern Sweden | NC_000015.9 - 75041917 | Jul 13, 2019 (153) |
| 153 | The PAGE Study | NC_000015.10 - 74749576 | Jul 13, 2019 (153) |
| 154 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000015.9 - 75041917 | Apr 27, 2021 (155) |
| 155 | CNV burdens in cranial meningiomas | NC_000015.9 - 75041917 | Apr 27, 2021 (155) |
| 156 | Qatari | NC_000015.9 - 75041917 | Apr 27, 2020 (154) |
| 157 | SGDP_PRJ | NC_000015.9 - 75041917 | Apr 27, 2020 (154) |
| 158 | Siberian | NC_000015.9 - 75041917 | Apr 27, 2020 (154) |
| 159 | 38KJPN | NC_000015.10 - 74749576 | Nov 01, 2024 (157) |
| 160 | TopMed | NC_000015.10 - 74749576 | Apr 27, 2021 (155) |
| 161 | UK 10K study - Twins | NC_000015.9 - 75041917 | Oct 12, 2018 (152) |
| 162 | A Vietnamese Genetic Variation Database | NC_000015.9 - 75041917 | Jul 13, 2019 (153) |
| 163 | ALFA | NC_000015.10 - 74749576 | Nov 01, 2024 (157) |
| 164 | ClinVar | RCV000607978.1 | Oct 12, 2018 (152) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs17861151 | Mar 11, 2006 (126) |
| rs57172993 | May 23, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss77249500, ss78138122, ss81867625, ss90212964, ss108951538, ss118287259, ss168323693, ss171334629, ss201038387, ss207276456, ss211634441, ss255113784, ss282318919, ss286982960, ss291752903, ss1695981777, ss1713502765, ss2635059543, ss3643079190 | NC_000015.8:72828969:C:A | NC_000015.10:74749575:C:A | (self) |
| 67222948, 37331440, 26435861, 3924184, 16659134, 39654904, 14351281, 952975, 253526, 17400522, 35276767, 9385161, 37331440, 8301255, ss226976365, ss236837905, ss243214195, ss537492692, ss564579142, ss660315791, ss833121641, ss991955442, ss1080250552, ss1354127376, ss1427677612, ss1577703183, ss1633356822, ss1676350855, ss1808277882, ss1935358592, ss1959626385, ss1968147765, ss2028461525, ss2156868807, ss2628725575, ss2633251310, ss2701347563, ss2936801958, ss2985046785, ss2985680243, ss3013550582, ss3021649405, ss3029638391, ss3351189075, ss3627401422, ss3638095672, ss3652051093, ss3653818979, ss3680697613, ss3741066416, ss3753294168, ss3787894060, ss3792898501, ss3797783102, ss3834317586, ss3840758303, ss3883259787, ss3932477510, ss3984077386, ss3984704001, ss3985727048, ss3986656448, ss4017710716, ss6269305188, ss6315157305, ss6322526136, ss6327629779, ss6333023118, ss6346203322, ss6349896116, ss6350085785, ss8216965599, ss8420300636, ss8511483231, ss8624054966, ss8624365246, ss8657836146, ss8800195017, ss8828426685, ss8847451976, ss8847749760, ss8848407137, ss8949253594, ss8979466989, ss8981325940, ss8981789406, ss8981789407, ss8982251121 | NC_000015.9:75041916:C:A | NC_000015.10:74749575:C:A | (self) |
| RCV000607978.1, 88239754, 508488410, 1295505, 32858996, 42296683, 1063366, 174722823, 212771882, 4453588331, ss2208164850, ss3028055315, ss3650391890, ss3698219467, ss3725514473, ss3771841897, ss3818599972, ss3846248060, ss3976480995, ss4997226222, ss6157347003, ss6205742216, ss6322017914, ss6392444785, ss6404138833, ss6981064288, ss8299021715, ss8492692946, ss8600713819, ss8771002566, ss8815479399, ss8851361370, ss8876549165 | NC_000015.10:74749575:C:A | NC_000015.10:74749575:C:A | (self) |
| ss16693658, ss17550994, ss19332187, ss21294849, ss52082171 | NT_010194.16:45832234:C:A | NC_000015.10:74749575:C:A | (self) |
| ss136311, ss3465118, ss5586402, ss6312283, ss23424783, ss28515502, ss43689890, ss70354977, ss75249123, ss96771624, ss119367021, ss132421760, ss136431794, ss154435645, ss156737929, ss159610671, ss174459001, ss244310274, ss410811995 | NT_010194.17:45832473:C:A | NC_000015.10:74749575:C:A | (self) |
| 39654904, ss3932477510 | NC_000015.9:75041916:C:G | NC_000015.10:74749575:C:G | (self) |
| 4453588331 | NC_000015.10:74749575:C:G | NC_000015.10:74749575:C:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
189
citations for rs762551
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 16172230 | Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome p450 genes involved in catechol estrogen metabolism. | Starr JR et al. | 2005 | Cancer epidemiology, biomarkers & prevention |
| 17116718 | Dietary phytoestrogen intake is associated with reduced colorectal cancer risk. | Cotterchio M et al. | 2006 | The Journal of nutrition |
| 17160896 | Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants. | Shi M et al. | 2007 | American journal of human genetics |
| 17688403 | Association of serotonin 2A receptor and lack of association of CYP1A2 gene polymorphism with tardive dyskinesia in a Turkish population. | Boke O et al. | 2007 | DNA and cell biology |
| 18075470 | Association between caffeine intake and risk of Parkinson's disease among fast and slow metabolizers. | Tan EK et al. | 2007 | Pharmacogenetics and genomics |
| 18268115 | Meat intake, heterocyclic amine exposure, and metabolizing enzyme polymorphisms in relation to colorectal polyp risk. | Shin A et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
| 18632753 | Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes. | Figueroa JD et al. | 2008 | Carcinogenesis |
| 18759349 | Coffee, caffeine-related genes, and Parkinson's disease: a case-control study. | Facheris MF et al. | 2008 | Movement disorders |
| 18798002 | Coffee consumption, genetic susceptibility and bladder cancer risk. | Villanueva CM et al. | 2009 | Cancer causes & control |
| 18941913 | Coffee intake, variants in genes involved in caffeine metabolism, and the risk of epithelial ovarian cancer. | Kotsopoulos J et al. | 2009 | Cancer causes & control |
| 18990750 | Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk. | Cotterchio M et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
| 18992148 | Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study. | Küry S et al. | 2008 | BMC cancer |
| 19276377 | CYP1A1/2 haplotypes and lung cancer and assessment of confounding by population stratification. | Aldrich MC et al. | 2009 | Cancer research |
| 19287484 | Clique-finding for heterogeneity and multidimensionality in biomarker epidemiology research: the CHAMBER algorithm. | Mushlin RA et al. | 2009 | PloS one |
| 19338043 | Genetic polymorphisms in glutathione S-transferases and cytochrome P450s, tobacco smoking, and risk of non-Hodgkin lymphoma. | Kilfoy BA et al. | 2009 | American journal of hematology |
| 19415745 | Genetic polymorphisms of estrogen metabolizing enzyme and breast cancer risk in Thai women. | Sangrajrang S et al. | 2009 | International journal of cancer |
| 19430483 | Genome-wide association study identifies eight loci associated with blood pressure. | Newton-Cheh C et al. | 2009 | Nature genetics |
| 19636338 | Pharmacogenetics and olanzapine treatment: CYP1A2*1F and serotonergic polymorphisms influence therapeutic outcome. | Laika B et al. | 2010 | The pharmacogenomics journal |
| 19822571 | Genetic variations in xenobiotic metabolic pathway genes, personal hair dye use, and risk of non-Hodgkin lymphoma. | Zhang Y et al. | 2009 | American journal of epidemiology |
| 19860743 | Effect of gene-environment Interactions on mental development in African American, Dominican, and Caucasian mothers and newborns. | Wang S et al. | 2010 | Annals of human genetics |
| 20029944 | Genetic polymorphisms in the metabolic pathway and non-Hodgkin lymphoma survival. | Han X et al. | 2010 | American journal of hematology |
| 20131310 | Genetic polymorphisms in cytochrome P450s, GSTs, NATs, alcohol consumption and risk of non-Hodgkin lymphoma. | Li Y et al. | 2010 | American journal of hematology |
| 20213484 | Frequencies of genetic polymorphisms related to triptans metabolism in chronic migraine. | Gentile G et al. | 2010 | The journal of headache and pain |
| 20304699 | Polymorphisms of caffeine metabolism and estrogen receptor genes and risk of Parkinson's disease in men and women. | Palacios N et al. | 2010 | Parkinsonism & related disorders |
| 20389299 | Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism. | Xu CF et al. | 2010 | British journal of cancer |
| 20505544 | Effect of hormone metabolism genotypes on steroid hormone levels and menopausal symptoms in a prospective population-based cohort of women experiencing the menopausal transition. | Rebbeck TR et al. | 2010 | Menopause (New York, N.Y.) |
| 20532872 | Genetics of caffeine consumption and responses to caffeine. | Yang A et al. | 2010 | Psychopharmacology |
| 20559687 | CYP1A2 polymorphisms, occupational and environmental exposures and risk of bladder cancer. | Pavanello S et al. | 2010 | European journal of epidemiology |
| 20641098 | Caffeine, selected metabolic gene variants, and risk for neural tube defects. | Schmidt RJ et al. | 2010 | Birth defects research. Part A, Clinical and molecular teratology |
| 20652353 | Genetic polymorphisms related to efficacy and overuse of triptans in chronic migraine. | Gentile G et al. | 2010 | The journal of headache and pain |
| 20691427 | Genetic associations of brain structural networks in schizophrenia: a preliminary study. | Jagannathan K et al. | 2010 | Biological psychiatry |
| 20937634 | Cigarette smoking, genetic variants in carcinogen-metabolizing enzymes, and colorectal cancer risk. | Cleary SP et al. | 2010 | American journal of epidemiology |
| 20957336 | CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. | Wickliffe JK et al. | 2011 | Molecular medicine (Cambridge, Mass.) |
| 21081473 | Genetic variation in the bioactivation pathway for polycyclic hydrocarbons and heterocyclic amines in relation to risk of colorectal neoplasia. | Wang H et al. | 2011 | Carcinogenesis |
| 21132113 | Direct-to-Consumer Genetic and Genomic Testing: Preparing Nurse Practitioners for Genomic Healthcare. | Loud JT et al. | 2010 | The journal for nurse practitioners |
| 21281405 | Coffee, ADORA2A, and CYP1A2: the caffeine connection in Parkinson's disease. | Popat RA et al. | 2011 | European journal of neurology |
| 21289622 | Pharmacogenomics of the RNA world: structural RNA polymorphisms in drug therapy. | Sadee W et al. | 2011 | Clinical pharmacology and therapeutics |
| 21357676 | Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption. | Sulem P et al. | 2011 | Human molecular genetics |
| 21382071 | Altered xanthine oxidase and N-acetyltransferase activity in obese children. | Chiney MS et al. | 2011 | British journal of clinical pharmacology |
| 21467728 | Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. | Wakai K et al. | 2011 | Journal of epidemiology |
| 21618522 | Carcinogen metabolism genes, red meat and poultry intake, and colorectal cancer risk. | Wang J et al. | 2012 | International journal of cancer |
| 21834891 | An attempt to replicate interaction between coffee and CYP1A2 gene in connection to Parkinson's disease. | Hill-Burns EM et al. | 2011 | European journal of neurology |
| 21876539 | Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. | Amin N et al. | 2012 | Molecular psychiatry |
| 21918509 | Pharmacogenomics: application to the management of cardiovascular disease. | Johnson JA et al. | 2011 | Clinical pharmacology and therapeutics |
| 21918647 | Pathway-Targeted Pharmacogenomics of CYP1A2 in Human Liver. | Klein K et al. | 2010 | Frontiers in pharmacology |
| 21958689 | Genetic variation in the sex hormone metabolic pathway and endometriosis risk: an evaluation of candidate genes. | Trabert B et al. | 2011 | Fertility and sterility |
| 21998633 | Functional evaluation of genetic and environmental regulators of p450 mRNA levels. | Wang D et al. | 2011 | PloS one |
| 22301281 | Genetic variants in carcinogen-metabolizing enzymes, cigarette smoking and pancreatic cancer risk. | Jang JH et al. | 2012 | Carcinogenesis |
| 22448283 | Genotyping performance between saliva and blood-derived genomic DNAs on the DMET array: a comparison. | Hu Y et al. | 2012 | PloS one |
| 22466345 | Joint effects of smoking and gene variants involved in sex steroid metabolism on hot flashes in late reproductive-age women. | Butts SF et al. | 2012 | The Journal of clinical endocrinology and metabolism |
| 22492992 | Caffeine intake and CYP1A2 variants associated with high caffeine intake protect non-smokers from hypertension. | Guessous I et al. | 2012 | Human molecular genetics |
| 22610071 | Polymorphisms in carcinogen metabolism enzymes, fish intake, and risk of prostate cancer. | Catsburg C et al. | 2012 | Carcinogenesis |
| 22645715 | Xenobiotic metabolizing gene variants and renal cell cancer: a multicenter study. | Heck JE et al. | 2012 | Frontiers in oncology |
| 22648710 | CYP1A2 and coffee intake and the modifying effect of sex, age, and smoking. | Rodenburg EM et al. | 2012 | The American journal of clinical nutrition |
| 22655262 | Exposure to Polycyclic Aromatic Hydrocarbons Among Never Smokers in Golestan Province, Iran, an Area of High Incidence of Esophageal Cancer - a Cross-Sectional Study with Repeated Measurement of Urinary 1-OHPG in Two Seasons. | Islami F et al. | 2012 | Frontiers in oncology |
| 22724046 | Polymorphisms in heterocyclic aromatic amines metabolism-related genes are associated with colorectal adenoma risk. | Eichholzer M et al. | 2012 | International journal of molecular epidemiology and genetics |
| 22784880 | Polymorphisms in cytochrome P450 2C19 enzyme and cessation of leflunomide in patients with rheumatoid arthritis. | Wiese MD et al. | 2012 | Arthritis research & therapy |
| 22822096 | Red meat and poultry, cooking practices, genetic susceptibility and risk of prostate cancer: results from a multiethnic case-control study. | Joshi AD et al. | 2012 | Carcinogenesis |
| 23015320 | Using gene-environment interaction analyses to clarify the role of well-done meat and heterocyclic amine exposure in the etiology of colorectal polyps. | Fu Z et al. | 2012 | The American journal of clinical nutrition |
| 23130019 | Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations. | Roco A et al. | 2012 | Frontiers in genetics |
| 23157985 | CYP1A2 rs762551 polymorphism contributes to cancer susceptibility: a meta-analysis from 19 case-control studies. | Wang H et al. | 2012 | BMC cancer |
| 23175176 | Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype. | Etemadi A et al. | 2013 | International journal of cancer |
| 23299405 | Interaction of cigarette smoking and carcinogen-metabolizing polymorphisms in the risk of colorectal polyps. | Fu Z et al. | 2013 | Carcinogenesis |
| 23462460 | Current evidence on the relationship between three polymorphisms in the CYP1A2 gene and the risk of cancer. | Zhenzhen L et al. | 2013 | European journal of cancer prevention |
| 23492908 | Influence of CYP1A1/CYP1A2 and AHR polymorphisms on systemic olanzapine exposure. | Söderberg MM et al. | 2013 | Pharmacogenetics and genomics |
| 23528250 | Genetic association of aromatic hydrocarbon receptor (AHR) and cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1) polymorphisms with dioxin blood concentrations among pregnant Japanese women. | Kobayashi S et al. | 2013 | Toxicology letters |
| 23530639 | High coffee intake, but not caffeine, is associated with reduced estrogen receptor negative and postmenopausal breast cancer risk with no effect modification by CYP1A2 genotype. | Lowcock EC et al. | 2013 | Nutrition and cancer |
| 23628800 | Role of CYP1A2 1F polymorphism in cancer risk: evidence from a meta-analysis of 46 case-control studies. | Tian Z et al. | 2013 | Gene |
| 23686565 | Genetic polymorphism of cytochrome P450 (CYP) 1A1, CYP1A2, and CYP2E1 genes modulate susceptibility to gastric cancer in patients with Helicobacter pylori infection. | Ghoshal U et al. | 2014 | Gastric cancer |
| 23797323 | Pharmacogenomics of anti-platelet and anti-coagulation therapy. | Fisch AS et al. | 2013 | Current cardiology reports |
| 23946381 | Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. | Ma X et al. | 2014 | Gut |
| 23959649 | Ten years of progress in the Hokkaido birth cohort study on environment and children's health: cohort profile--updated 2013. | Kishi R et al. | 2013 | Environmental health and preventive medicine |
| 24177223 | Significant interactions between maternal PAH exposure and haplotypes in candidate genes on B[a]P-DNA adducts in a NYC cohort of non-smoking African-American and Dominican mothers and newborns. | Iyer S et al. | 2014 | Carcinogenesis |
| 24293373 | CYP1A2 rs762551 polymorphism contributes to risk of lung cancer: a meta-analysis. | Ma Z et al. | 2014 | Tumour biology |
| 24372004 | Effect of CYP1A2 polymorphism on the pharmacokinetics of agomelatine in Chinese healthy male volunteers. | Song L et al. | 2014 | Journal of clinical pharmacy and therapeutics |
| 24884825 | Increased genetic diversity of ADME genes in African Americans compared with their putative ancestral source populations and implications for pharmacogenomics. | Li J et al. | 2014 | BMC genetics |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 25207010 | Polymorphisms of cytochrome p450 genes in three ethnic groups from Russia. | Korytina G et al. | 2012 | Balkan medical journal |
| 25231222 | Meat-derived carcinogens, genetic susceptibility and colorectal adenoma risk. | Ho V et al. | 2014 | Genes & nutrition |
| 25348619 | Influence of single-nucleotide polymorphisms on deferasirox C trough levels and effectiveness. | Cusato J et al. | 2015 | The pharmacogenomics journal |
| 25355624 | Tobacco smoking, polymorphisms in carcinogen metabolism enzyme genes, and risk of localized and advanced prostate cancer: results from the California Collaborative Prostate Cancer Study. | Shahabi A et al. | 2014 | Cancer medicine |
| 25472037 | Association between the CYP1A2 polymorphisms and risk of cancer: a meta-analysis. | Sun WX et al. | 2015 | Molecular genetics and genomics |
| 25602162 | Cytochrome P450 1A2 co-determines neuroleptic load and may diminish tardive dyskinesia by increased inducibility. | Ivanova SA et al. | 2015 | The world journal of biological psychiatry |
| 25689428 | Genetic polymorphisms in estrogen-related genes and the risk of breast cancer among Han Chinese women. | Sun MY et al. | 2015 | International journal of molecular sciences |
| 25719551 | The role of genotypes that modify the toxicity of chemical mutagens in the risk for myeloproliferative neoplasms. | Gross-Davis CA et al. | 2015 | International journal of environmental research and public health |
| 25729430 | Cancer based pharmacogenomics network supported with scientific evidences: from the view of drug repurposing. | Wang L et al. | 2015 | BioData mining |
| 26062916 | Caffeine and 3-km cycling performance: Effects of mouth rinsing, genotype, and time of day. | Pataky MW et al. | 2016 | Scandinavian journal of medicine & science in sports |
| 26331989 | Genetic polymorphism of CYP1A2 but not total or free teriflunomide concentrations is associated with leflunomide cessation in rheumatoid arthritis. | Hopkins AM et al. | 2016 | British journal of clinical pharmacology |
| 26348712 | Effects of CYP2B6 and CYP1A2 Genetic Variation on Nevirapine Plasma Concentration and Pharmacodynamics as Measured by CD4 Cell Count in Zimbabwean HIV-Infected Patients. | Mhandire D et al. | 2015 | Omics |
| 26451011 | Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas. | Montazeri Z et al. | 2016 | International journal of epidemiology |
| 26779253 | An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3'-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients. | Swart M et al. | 2015 | Frontiers in genetics |
| 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 |
| 26819062 | Characterizing redescriptions using persistent homology to isolate genetic pathways contributing to pathogenesis. | Platt DE et al. | 2016 | BMC systems biology |
| 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 |
| 26865042 | Lack of association between polymorphisms in the CYP1A2 gene and risk of cancer: evidence from meta-analyses. | Vukovic V et al. | 2016 | BMC cancer |
| 26904401 | Implementation of a reference-scaled average bioequivalence approach for highly variable generic drug products of agomelatine in Chinese subjects. | Tang F et al. | 2016 | Acta pharmaceutica Sinica. B |
| 26942037 | Genetic Profile, Environmental Exposure, and Their Interaction in Parkinson's Disease. | Polito L et al. | 2016 | Parkinson's disease |
| 26988277 | Genetic Association of Curative and Adverse Reactions to Tyrosine Kinase Inhibitors in Chinese advanced Non-Small Cell Lung Cancer patients. | Ruan Y et al. | 2016 | Scientific reports |
| 27029552 | CYP1A2--a novel genetic marker for early aromatase inhibitor response in the treatment of breast cancer patients. | Simonsson M et al. | 2016 | BMC cancer |
| 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 |
| 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 |
| 27767381 | The effect of SNPs in CYP450 in chloroquine/primaquine Plasmodium vivax malaria treatment. | Sortica VA et al. | 2016 | Pharmacogenomics |
| 27894333 | Head-and-neck squamous cell carcinoma risk in smokers: no association detected between phenotype and AHR, CYP1A1, CYP1A2, or CYP1B1 genotype. | Jorge-Nebert LF et al. | 2016 | Human genomics |
| 27956118 | Genetic polymorphisms of phase I metabolizing enzyme genes, their interaction with lifetime grilled and smoked meat intake, and breast cancer incidence. | Parada H Jr et al. | 2017 | Annals of epidemiology |
| 27977510 | A comprehensive contribution of genes for aryl hydrocarbon receptor signaling pathway to hypertension susceptibility. | Polonikov AV et al. | 2017 | Pharmacogenetics and genomics |
| 28095090 | Associations between Rs4244285 and Rs762551 gene polymorphisms and age-related macular degeneration. | Stasiukonyte N et al. | 2017 | Ophthalmic genetics |
| 28117133 | Pharmacogenetics of ecstasy: CYP1A2, CYP2C19, and CYP2B6 polymorphisms moderate pharmacokinetics of MDMA in healthy subjects. | Vizeli P et al. | 2017 | European neuropsychopharmacology |
| 28135712 | Gene-Environment Interaction in Parkinson's Disease: Coffee, ADORA2A, and CYP1A2. | Chuang YH et al. | 2016 | Neuroepidemiology |
| 28287486 | CYP1A2 Genotype Variations Do Not Modify the Benefits and Drawbacks of Caffeine during Exercise: A Pilot Study. | Salinero JJ et al. | 2017 | Nutrients |
| 28346059 | Deferasirox pharmacogenetic influence on pharmacokinetic, efficacy and toxicity in a cohort of pediatric patients. | Allegra S et al. | 2017 | Pharmacogenomics |
| 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 |
| 28827732 | Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies. | Wang J et al. | 2017 | Scientific reports |
| 28900995 | [Association between genetic polymorphisms and variation of imatinib pharmacokinetics in gastrointestinal stromal tumors]. | Qiu H et al. | 2017 | Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery |
| 29278931 | CYP1A2*1F Gene Variant, Alkaline Salt Tea Intake and Risk of Esophageal Squamous Cell Carcinoma. | Shah IA et al. | 2018 | Nutrition and cancer |
| 29282363 | The impact of genetic polymorphisms on CYP1A2 activity in humans: a systematic review and meta-analysis. | Koonrungsesomboon N et al. | 2018 | The pharmacogenomics journal |
| 29318639 | Interaction between caffeine and polymorphisms of glutamate ionotropic receptor NMDA type subunit 2A (GRIN2A) and cytochrome P450 1A2 (CYP1A2) on Parkinson's disease risk. | Kim IY et al. | 2018 | Movement disorders |
| 29449662 | Assessment of interaction between maternal polycyclic aromatic hydrocarbons exposure and genetic polymorphisms on the risk of congenital heart diseases. | Li N et al. | 2018 | Scientific reports |
| 29509641 | Caffeine, CYP1A2 Genotype, and Endurance Performance in Athletes. | Guest N et al. | 2018 | Medicine and science in sports and exercise |
| 29569539 | Postprandial glycaemic and lipaemic responses to chronic coffee consumption may be modulated by CYP1A2 polymorphisms. | Robertson TM et al. | 2018 | The British journal of nutrition |
| 29668752 | The CYP1A2 -163C>A polymorphism does not alter the effects of caffeine on basketball performance. | Puente C et al. | 2018 | PloS one |
| 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 |
| 29736057 | A preliminary study of association of genetic variants with early response to olanzapine in schizophrenia. | Singh A et al. | 2018 | Indian journal of psychiatry |
| 30093869 | Biological Predictors of Clozapine Response: A Systematic Review. | Samanaite R et al. | 2018 | Frontiers in psychiatry |
| 30179617 | Coffee, Caffeine Metabolism Genotype and Disease Progression in Patients with Localized Prostate Cancer Managed with Active Surveillance. | Gregg JR et al. | 2019 | The Journal of urology |
| 30392849 | Antiretroviral therapy immunologic non-response in a Brazilian population: association study using pharmaco- and immunogenetic markers. | Coelho AVC et al. | 2018 | The Brazilian journal of infectious diseases |
| 30591530 | Alterations in Xenobiotic-Metabolizing Enzyme Activities across Menstrual Cycle in Healthy Volunteers. | Asprodini E et al. | 2019 | The Journal of pharmacology and experimental therapeutics |
| 30706164 | Effects of MAO-A and CYP450 on primaquine metabolism in healthy volunteers. | Ariffin NM et al. | 2019 | Parasitology research |
| 30713339 | Genetic polymorphisms in ABCG2 and CYP1A2 are associated with imatinib dose reduction in patients treated for gastrointestinal stromal tumors. | Verboom MC et al. | 2019 | The pharmacogenomics journal |
| 30773300 | Influence of genetic polymorphisms and habitual caffeine intake on the changes in blood pressure, pulse rate, and calculation speed after caffeine intake: A prospective, double blind, randomized trial in healthy volunteers. | Yoshihara T et al. | 2019 | Journal of pharmacological sciences |
| 31324842 | Genetic Polymorphisms in ADORA2A and CYP1A2 Influence Caffeine's Effect on Postprandial Glycaemia. | Banks NF et al. | 2019 | Scientific reports |
| 31477036 | Association of CYP gene polymorphisms with breast cancer risk and prognostic factors in the Jordanian population. | Al-Eitan LN et al. | 2019 | BMC medical genetics |
| 31556777 | Effects of cigarette smoking on older chinese men treated with clopidogrel monotherapy or aspirin monotherapy: a prospective study. | Cai Y et al. | 2020 | Platelets |
| 31629678 | Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry. | Yang Y et al. | 2019 | EBioMedicine |
| 31694152 | Acute Ingestion of a Mixed Flavonoid and Caffeine Supplement Increases Energy Expenditure and Fat Oxidation in Adult Women: A Randomized, Crossover Clinical Trial. | Nieman DC et al. | 2019 | Nutrients |
| 31998606 | New insights of CYP1A in endogenous metabolism: a focus on single nucleotide polymorphisms and diseases. | Lu J et al. | 2020 | Acta pharmaceutica Sinica. B |
| 32042822 | The analysis of pharmacokinetic and pharmacogenomic impact on gefitinib efficacy in advanced non-small cell lung cancer patients: results from a prospective cohort study. | Ma Y et al. | 2019 | Annals of translational medicine |
| 32070304 | The association of genetic polymorphisms in CYP1A2, UGT1A4, and ABCB1 with autonomic nervous system dysfunction in schizophrenia patients treated with olanzapine. | Hattori S et al. | 2020 | BMC psychiatry |
| 32228310 | Functionally Significant Coumarin-Related Variant Alleles and Time to Therapeutic Range in Chilean Cardiovascular Patients. | Rojo M et al. | 2020 | Clinical and applied thrombosis/hemostasis |
| 32295624 | CYP1A2 genotype and acute effects of caffeine on resistance exercise, jumping, and sprinting performance. | Grgic J et al. | 2020 | Journal of the International Society of Sports Nutrition |
| 32298597 | CYP Genotypes Are Associated with Toxicity and Survival in Osteosarcoma Patients. | Trujillo-Paolillo A et al. | 2020 | Journal of adolescent and young adult oncology |
| 32303460 | (13)C-caffeine breath test identifies single nucleotide polymorphisms associated with caffeine metabolism. | Ishii M et al. | 2020 | Drug metabolism and pharmacokinetics |
| 32356023 | The effect of caffeine on cognitive performance is influenced by CYP1A2 but not ADORA2A genotype, yet neither genotype affects exercise performance in healthy adults. | Carswell AT et al. | 2020 | European journal of applied physiology |
| 32424513 | CYP1A2 rs762551 and ADORA2A rs5760423 Polymorphisms in Patients with Blepharospasm. | Siokas V et al. | 2020 | Journal of molecular neuroscience |
| 32457635 | Polymorphisms of Drug-Metabolizing Enzymes and Transporters Contribute to the Individual Variations of Erlotinib Steady State Trough Concentration, Treatment Outcomes, and Adverse Reactions in Epidermal Growth Factor Receptor-Mutated Non-Small Cell Lung Cancer Patients. | Liao D et al. | 2020 | Frontiers in pharmacology |
| 32476096 | Modulation of CYP2E1 metabolic activity in a cohort of confirmed caffeine ingesting pregnant women with preterm offspring. | Alcorta-García MR et al. | 2020 | Molecular and cellular pediatrics |
| 32569126 | Effect of Caffeine on Endurance Performance in Athletes May Depend on HTR2A and CYP1A2 Genotypes. | Guest NS et al. | 2022 | Journal of strength and conditioning research |
| 32592103 | CYP1A2 rs762551 polymorphism and risk for amyotrophic lateral sclerosis. | Siokas V et al. | 2021 | Neurological sciences |
| 32609646 | Five genetic polymorphisms of cytochrome P450 enzymes in the Czech non-Roma and Czech Roma population samples. | Dlouhá L et al. | 2020 | Drug metabolism and personalized therapy |
| 32681777 | Five genetic polymorphisms of cytochrome P450 enzymes in the Czech non-Roma and Czech Roma population samples. | Dlouhá L et al. | 2020 | Drug metabolism and personalized therapy |
| 32797194 | Genetic Variation and Hot Flashes: A Systematic Review. | Crandall CJ et al. | 2020 | The Journal of clinical endocrinology and metabolism |
| 32814585 | Association of CYP19A1 and CYP1A2 genetic polymorphisms with type 2 diabetes mellitus risk in the Chinese Han population. | Yang Y et al. | 2020 | Lipids in health and disease |
| 32823594 | Effects of CYP1A2 and ADORA2A Genotypes on the Ergogenic Response to Caffeine in Professional Handball Players. | Muñoz A et al. | 2020 | Genes |
| 32872162 | Pharmacogenomics to Predict Tumor Therapy Response: A Focus on ATP-Binding Cassette Transporters and Cytochromes P450. | Hlaváč V et al. | 2020 | Journal of personalized medicine |
| 32992097 | Association of the genetic polymorphisms of metabolizing enzymes, transporters, target receptors and their interactions with treatment response to olanzapine in chinese han schizophrenia patients. | Yan P et al. | 2020 | Psychiatry research |
| 33046100 | The influence of CYP1A1 and CYP1A2 polymorphisms on stroke risk in the Chinese population. | Mao Y et al. | 2020 | Lipids in health and disease |
| 33170161 | Genetic test for the prescription of diets in support of physical activity. | Naureen Z et al. | 2020 | Acta bio-medica |
| 33174399 | Genetic predisposition to the development of congenital heart diseases: Role of xenobiotic biotransformation genes. | Tsepokina A et al. | 2021 | Birth defects research |
| 33192522 | Pleiotropic Functions of Cytochrome P450 Monooxygenase-Derived Eicosanoids in Cancer. | Luo Y et al. | 2020 | Frontiers in pharmacology |
| 33498513 | ADORA2A rs5760423 and CYP1A2 rs762551 Polymorphisms as Risk Factors for Parkinson's Disease. | Siokas V et al. | 2021 | Journal of clinical medicine |
| 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 |
| 33763108 | Whole Genome Interpretation for a Family of Five. | Corpas M et al. | 2021 | Frontiers in genetics |
| 33779967 | Pharmacokinetics of Eltrombopag in Healthy Chinese Subjects and Effect of Sex and Genetic Polymorphism on its Pharmacokinetic and Pharmacodynamic Variability. | Chen J et al. | 2021 | European journal of drug metabolism and pharmacokinetics |
| 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 |
| 33995083 | Dexketoprofen Pharmacokinetics is not Significantly Altered by Genetic Polymorphism. | Mejía-Abril G et al. | 2021 | Frontiers in pharmacology |
| 34284351 | CYP1A2 Genotype Modifies the Effects of Caffeine Compared With Placebo on Muscle Strength in Competitive Male Athletes. | Wong O et al. | 2021 | International journal of sport nutrition and exercise metabolism |
| 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 |
| 34391463 | Association between hypertension and coffee drinking based on CYP1A2 rs762551 single nucleotide polymorphism in Taiwanese. | Hou CC et al. | 2021 | Nutrition & metabolism |
| 34429635 | Population Genetic Difference of Pharmacogenomic VIP Variants in the Tibetan Population. | He C et al. | 2021 | Pharmacogenomics and personalized medicine |
| 34434063 | Genetic Polymorphisms of Pesticide-Metabolizing Enzymes and Transporters in Agricultural Workers and Thyroid Hormone Levels. | Sirivarasai J et al. | 2021 | Risk management and healthcare policy |
| 34502168 | Influence of the Aryl Hydrocarbon Receptor Activating Environmental Pollutants on Autism Spectrum Disorder. | Dhulkifle H et al. | 2021 | International journal of molecular sciences |
| 34564706 | CYP1A2 polymorphisms modify the association of habitual coffee consumption with appetite, macronutrient intake, and body mass index: results from an observational cohort and a cross-over randomized study. | Gkouskou KG et al. | 2022 | International journal of obesity (2005) |
| 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 |
| 34766583 | CYP1A2 polymorphism may contribute to agomelatine-induced acute liver injury: Case report and review of the literature. | Wang S et al. | 2021 | Medicine |
| 34798807 | Genetic analysis of pharmacogenomic VIP variants in the Wa population from Yunnan Province of China. | Li D et al. | 2021 | BMC genomic data |
| 34949935 | Genetic Polymorphisms of Very Important Pharmacogene Variants in the Blang Population from Yunnan Province in China. | Wang Y et al. | 2021 | Pharmacogenomics and personalized medicine |
| 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 |
| 35380334 | Contribution of CYP19A1, CYP1A1, and CYP1A2 polymorphisms in coronary heart disease risk among the Chinese Han population. | Ye W et al. | 2022 | Functional & integrative genomics |
| 35393538 | Abstracts from the 54(th) European Society of Human Genetics (ESHG) Conference: e-Posters. | 2022 | European journal of human genetics | |
| 35572141 | Polymorphisms of Cytochromes P450 and Glutathione S-Transferases Synergistically Modulate Risk for Parkinson's Disease. | Fan HH et al. | 2022 | Frontiers in aging neuroscience |
| 35905656 | Functional single-nucleotide polymorphism (rs762551) in CYP1A2 gene affects white coffee intake in healthy 20- to 40-year-old adults. | Nikrandt G et al. | 2022 | Nutrition research (New York, N.Y.) |
| 35995710 | Coffee Intake, Caffeine Metabolism Genotype, and Survival Among Men with Prostate Cancer. | Gregg JR et al. | 2023 | European urology oncology |
| 36015253 | Factors Affecting the Metabolic Conversion of Ciprofloxacin and Exposure to Its Main Active Metabolites in Critically Ill Patients: Population Pharmacokinetic Analysis of Desethylene Ciprofloxacin. | Šíma M et al. | 2022 | Pharmaceutics |
| 36065758 | CYP2C8*3 and *4 define CYP2C8 phenotype: An approach with the substrate cinitapride. | Campodónico DM et al. | 2022 | Clinical and translational science |
| 36479490 | Clinical assessment for diet prescription. | Kiani AK et al. | 2022 | Journal of preventive medicine and hygiene |
| 36776603 | Interactions between genetic and lifestyle factors on cardiometabolic disease-related outcomes in Latin American and Caribbean populations: A systematic review. | Wuni R et al. | 2023 | Frontiers in nutrition |
| 37686209 | Evaluation of Human Hepatocyte Drug Metabolism Carrying High-Risk or Protection-Associated Liver Disease Genetic Variants. | Faccioli LAP et al. | 2023 | International journal of molecular sciences |
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.