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.
rs3758581
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr10:94842866 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- A>C / A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.0627705 (87970/1401454, GnomAD_exomes)A=0.044418 (11757/264690, TOPMED)A=0.047716 (7122/149258, GnomAD_genomes) (+ 4 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CYP2C19 : Missense Variant
- Publications
- 14 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.
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 65688 | A=0.05936 | G=0.94064 | 0.003623 | 0.88491 | 0.111466 | 0 |
| European | Sub | 47378 | A=0.06598 | G=0.93402 | 0.003884 | 0.871924 | 0.124193 | 1 |
| African | Sub | 8412 | A=0.0155 | G=0.9845 | 0.000476 | 0.969567 | 0.029957 | 1 |
| African Others | Sub | 306 | A=0.000 | G=1.000 | 0.0 | 1.0 | 0.0 | N/A |
| African American | Sub | 8106 | A=0.0160 | G=0.9840 | 0.000493 | 0.968418 | 0.031088 | 1 |
| Asian | Sub | 168 | A=0.042 | G=0.958 | 0.0 | 0.916667 | 0.083333 | 0 |
| East Asian | Sub | 112 | A=0.045 | G=0.955 | 0.0 | 0.910714 | 0.089286 | 0 |
| Other Asian | Sub | 56 | A=0.04 | G=0.96 | 0.0 | 0.928571 | 0.071429 | 0 |
| Latin American 1 | Sub | 500 | A=0.052 | G=0.948 | 0.0 | 0.896 | 0.104 | 0 |
| Latin American 2 | Sub | 628 | A=0.045 | G=0.955 | 0.0 | 0.910828 | 0.089172 | 0 |
| South Asian | Sub | 98 | A=0.16 | G=0.84 | 0.020408 | 0.693878 | 0.285714 | 0 |
| Other | Sub | 8504 | A=0.0666 | G=0.9334 | 0.005644 | 0.872531 | 0.121825 | 1 |
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 |
|---|---|---|---|---|---|
| gnomAD v4 - Exomes | Global | Study-wide | 1401454 | A=0.0627705 | G=0.9372295 |
| gnomAD v4 - Exomes | European | Sub | 1165402 | A=0.0619443 | G=0.9380557 |
| gnomAD v4 - Exomes | South Asian | Sub | 86250 | A=0.11033 | G=0.88967 |
| gnomAD v4 - Exomes | American | Sub | 44724 | A=0.03783 | G=0.96217 |
| gnomAD v4 - Exomes | East Asian | Sub | 39698 | A=0.04018 | G=0.95982 |
| gnomAD v4 - Exomes | African | Sub | 33476 | A=0.01249 | G=0.98751 |
| gnomAD v4 - Exomes | Ashkenazi Jewish | Sub | 26136 | A=0.08184 | G=0.91816 |
| gnomAD v4 - Exomes | Middle Eastern | sub | 5768 | A=0.0728 | G=0.9272 |
| TopMed | Global | Study-wide | 264690 | A=0.044418 | G=0.955582 |
| gnomAD v4 - Genomes | Global | Study-wide | 149258 | A=0.047716 | G=0.952284 |
| gnomAD v4 - Genomes | European | Sub | 78630 | A=0.06169 | G=0.93831 |
| gnomAD v4 - Genomes | African | Sub | 41556 | A=0.01244 | G=0.98756 |
| gnomAD v4 - Genomes | American | Sub | 15296 | A=0.04616 | G=0.95384 |
| gnomAD v4 - Genomes | East Asian | Sub | 5182 | A=0.0378 | G=0.9622 |
| gnomAD v4 - Genomes | South Asian | Sub | 4828 | A=0.1147 | G=0.8853 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3472 | A=0.0804 | G=0.9196 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 294 | A=0.065 | G=0.935 |
| 38KJPN | JAPANESE | Study-wide | 77444 | A=0.04132 | G=0.95868 |
| Allele Frequency Aggregator | Total | Global | 65688 | A=0.05936 | G=0.94064 |
| Allele Frequency Aggregator | European | Sub | 47378 | A=0.06598 | G=0.93402 |
| Allele Frequency Aggregator | Other | Sub | 8504 | A=0.0666 | G=0.9334 |
| Allele Frequency Aggregator | African | Sub | 8412 | A=0.0155 | G=0.9845 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 628 | A=0.045 | G=0.955 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 500 | A=0.052 | G=0.948 |
| Allele Frequency Aggregator | Asian | Sub | 168 | A=0.042 | G=0.958 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | A=0.16 | G=0.84 |
| 1000Genomes_30X | Global | Study-wide | 6404 | A=0.0458 | G=0.9542 |
| 1000Genomes_30X | African | Sub | 1786 | A=0.0017 | G=0.9983 |
| 1000Genomes_30X | Europe | Sub | 1266 | A=0.0648 | G=0.9352 |
| 1000Genomes_30X | South Asian | Sub | 1202 | A=0.1015 | G=0.8985 |
| 1000Genomes_30X | East Asian | Sub | 1170 | A=0.0410 | G=0.9590 |
| 1000Genomes_30X | American | Sub | 980 | A=0.039 | G=0.961 |
| HapMap | Global | Study-wide | 326 | A=0.046 | G=0.954 |
| HapMap | African | Sub | 120 | A=0.000 | G=1.000 |
| HapMap | American | Sub | 118 | A=0.051 | G=0.949 |
| HapMap | Asian | Sub | 88 | A=0.10 | G=0.90 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.94842866A>C |
| GRCh38.p14 chr 10 | NC_000010.11:g.94842866A>G |
| GRCh38.p14 chr 10 | NC_000010.11:g.94842866A>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.96602623G>A |
| GRCh37.p13 chr 10 | NC_000010.10:g.96602623G>C |
| GRCh37.p13 chr 10 | NC_000010.10:g.96602623G>T |
| CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.85186A>C |
| CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.85186A>G |
| CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.85186A>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CYP2C19 transcript | NM_000769.4:c.991A>C | I [ATT] > L [CTT] | Coding Sequence Variant |
| cytochrome P450 2C19 | NP_000760.1:p.Ile331Leu | I (Ile) > L (Leu) | Missense Variant |
| CYP2C19 transcript | NM_000769.4:c.991A>G | I [ATT] > V [GTT] | Coding Sequence Variant |
| cytochrome P450 2C19 | NP_000760.1:p.Ile331Val | I (Ile) > V (Val) | Missense Variant |
| CYP2C19 transcript | NM_000769.4:c.991A>T | I [ATT] > F [TTT] | Coding Sequence Variant |
| cytochrome P450 2C19 | NP_000760.1:p.Ile331Phe | I (Ile) > F (Phe) | Missense Variant |
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.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000948522.3 | not provided | Benign |
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | A= | C | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.94842866= | NC_000010.11:g.94842866A>C | NC_000010.11:g.94842866A>G | NC_000010.11:g.94842866A>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.96602623G>A | NC_000010.10:g.96602623G>C | NC_000010.10:g.96602623= | NC_000010.10:g.96602623G>T |
| CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.85186= | NG_008384.3:g.85186A>C | NG_008384.3:g.85186A>G | NG_008384.3:g.85186A>T |
| CYP2C19 transcript | NM_000769.4:c.991= | NM_000769.4:c.991A>C | NM_000769.4:c.991A>G | NM_000769.4:c.991A>T |
| CYP2C19 transcript | NM_000769.3:c.991= | NM_000769.3:c.991A>C | NM_000769.3:c.991A>G | NM_000769.3:c.991A>T |
| CYP2C19 transcript | NM_000769.2:c.991= | NM_000769.2:c.991A>C | NM_000769.2:c.991A>G | NM_000769.2:c.991A>T |
| CYP2C19 transcript | NM_000769.1:c.991= | NM_000769.1:c.991A>C | NM_000769.1:c.991A>G | NM_000769.1:c.991A>T |
| cytochrome P450 2C19 | NP_000760.1:p.Ile331= | NP_000760.1:p.Ile331Leu | NP_000760.1:p.Ile331Val | NP_000760.1:p.Ile331Phe |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | YUSUKE | ss4944613 | Aug 28, 2002 (107) |
| 2 | EGP_SNPS | ss28531457 | Dec 02, 2004 (126) |
| 3 | BIOVENTURES | ss32475267 | May 24, 2005 (125) |
| 4 | SI_EXO | ss71645826 | May 17, 2007 (127) |
| 5 | CGM_KYOTO | ss76860183 | Dec 07, 2007 (129) |
| 6 | CCHMC-CAE-PGCORE | ss79314157 | Dec 15, 2007 (130) |
| 7 | SNP500CANCER | ss105439565 | Oct 12, 2018 (152) |
| 8 | BCM-HGSC-SUB | ss207334512 | Jul 04, 2010 (132) |
| 9 | 1000GENOMES | ss235292788 | Jul 15, 2010 (132) |
| 10 | 1000GENOMES | ss241975999 | Jul 15, 2010 (132) |
| 11 | NHLBI-ESP | ss342304131 | May 09, 2011 (134) |
| 12 | ILLUMINA | ss410930003 | Sep 17, 2011 (135) |
| 13 | 1000GENOMES | ss491001647 | May 04, 2012 (137) |
| 14 | EXOME_CHIP | ss491438616 | May 04, 2012 (137) |
| 15 | CLINSEQ_SNP | ss491629948 | May 04, 2012 (137) |
| 16 | SSMP | ss657184747 | Apr 25, 2013 (138) |
| 17 | EVA-GONL | ss987805106 | Aug 21, 2014 (142) |
| 18 | JMKIDD_LAB | ss1067514950 | Aug 21, 2014 (142) |
| 19 | JMKIDD_LAB | ss1077215885 | Aug 21, 2014 (142) |
| 20 | 1000GENOMES | ss1338626236 | Aug 21, 2014 (142) |
| 21 | CLINVAR | ss1457608662 | Nov 23, 2014 (142) |
| 22 | EVA_FINRISK | ss1584069483 | Apr 01, 2015 (144) |
| 23 | EVA_DECODE | ss1597478394 | Apr 01, 2015 (144) |
| 24 | EVA_UK10K_ALSPAC | ss1625197181 | Apr 01, 2015 (144) |
| 25 | EVA_UK10K_TWINSUK | ss1668191214 | Apr 01, 2015 (144) |
| 26 | EVA_EXAC | ss1690012092 | Apr 01, 2015 (144) |
| 27 | EVA_MGP | ss1711265782 | Apr 01, 2015 (144) |
| 28 | WEILL_CORNELL_DGM | ss1931171288 | Feb 12, 2016 (147) |
| 29 | ILLUMINA | ss1959284965 | Feb 12, 2016 (147) |
| 30 | JJLAB | ss2026313890 | Sep 14, 2016 (149) |
| 31 | USC_VALOUEV | ss2154590560 | Nov 08, 2017 (151) |
| 32 | HUMAN_LONGEVITY | ss2177153242 | Dec 20, 2016 (150) |
| 33 | GRF | ss2698843396 | Nov 08, 2017 (151) |
| 34 | GNOMAD | ss2738421027 | Nov 08, 2017 (151) |
| 35 | GNOMAD | ss2748441562 | Nov 08, 2017 (151) |
| 36 | GNOMAD | ss2892135736 | Nov 08, 2017 (151) |
| 37 | SWEGEN | ss3006967182 | Nov 08, 2017 (151) |
| 38 | ILLUMINA | ss3021264892 | Nov 08, 2017 (151) |
| 39 | BIOINF_KMB_FNS_UNIBA | ss3026947019 | Nov 08, 2017 (151) |
| 40 | CSHL | ss3349261495 | Nov 08, 2017 (151) |
| 41 | OMUKHERJEE_ADBS | ss3646413625 | Oct 12, 2018 (152) |
| 42 | URBANLAB | ss3649441659 | Oct 12, 2018 (152) |
| 43 | URBANLAB | ss3649441660 | Oct 12, 2018 (152) |
| 44 | ILLUMINA | ss3651623318 | Oct 12, 2018 (152) |
| 45 | EGCUT_WGS | ss3674379182 | Jul 13, 2019 (153) |
| 46 | EVA_DECODE | ss3690462892 | Jul 13, 2019 (153) |
| 47 | ACPOP | ss3737586088 | Jul 13, 2019 (153) |
| 48 | EVA | ss3748469012 | Jul 13, 2019 (153) |
| 49 | KHV_HUMAN_GENOMES | ss3813835450 | Jul 13, 2019 (153) |
| 50 | EVA | ss3824540975 | Apr 26, 2020 (154) |
| 51 | EVA | ss3845153324 | Apr 26, 2020 (154) |
| 52 | SGDP_PRJ | ss3874829030 | Apr 26, 2020 (154) |
| 53 | KRGDB | ss3922957299 | Apr 26, 2020 (154) |
| 54 | KOGIC | ss3968459558 | Apr 26, 2020 (154) |
| 55 | KOGIC | ss3968459559 | Apr 26, 2020 (154) |
| 56 | FSA-LAB | ss3983983383 | Apr 26, 2021 (155) |
| 57 | EVA | ss3984639043 | Apr 26, 2021 (155) |
| 58 | EVA | ss3986493471 | Apr 26, 2021 (155) |
| 59 | TOPMED | ss4862649840 | Apr 26, 2021 (155) |
| 60 | TOMMO_GENOMICS | ss6114208285 | Nov 01, 2024 (157) |
| 61 | EVA | ss6253829243 | Nov 01, 2024 (157) |
| 62 | EVA | ss6307411548 | Nov 01, 2024 (157) |
| 63 | EVA | ss6322395615 | Nov 01, 2024 (157) |
| 64 | EVA | ss6332060858 | Nov 01, 2024 (157) |
| 65 | YEGNASUBRAMANIAN_LAB | ss6343187637 | Nov 01, 2024 (157) |
| 66 | EVA | ss6350060564 | Nov 01, 2024 (157) |
| 67 | EVA | ss6350134445 | Nov 01, 2024 (157) |
| 68 | EVA | ss6350134446 | Nov 01, 2024 (157) |
| 69 | EVA | ss6350134447 | Nov 01, 2024 (157) |
| 70 | EVA | ss6350134448 | Nov 01, 2024 (157) |
| 71 | EVA | ss6350134449 | Nov 01, 2024 (157) |
| 72 | EVA | ss6350134450 | Nov 01, 2024 (157) |
| 73 | EVA | ss6350134451 | Nov 01, 2024 (157) |
| 74 | EVA | ss6350134452 | Nov 01, 2024 (157) |
| 75 | EVA | ss6350134453 | Nov 01, 2024 (157) |
| 76 | EVA | ss6350134454 | Nov 01, 2024 (157) |
| 77 | EVA | ss6350134455 | Nov 01, 2024 (157) |
| 78 | EVA | ss6350134456 | Nov 01, 2024 (157) |
| 79 | EVA | ss6350134457 | Nov 01, 2024 (157) |
| 80 | KOGIC | ss6382290391 | Nov 01, 2024 (157) |
| 81 | KOGIC | ss6382290392 | Nov 01, 2024 (157) |
| 82 | EVA | ss6403982936 | Nov 01, 2024 (157) |
| 83 | EVA | ss6404050386 | Nov 01, 2024 (157) |
| 84 | EVA | ss6404454513 | Nov 01, 2024 (157) |
| 85 | GNOMAD | ss6440424686 | Nov 01, 2024 (157) |
| 86 | GNOMAD | ss6859897511 | Nov 01, 2024 (157) |
| 87 | TOMMO_GENOMICS | ss8198971957 | Nov 01, 2024 (157) |
| 88 | EVA | ss8236886082 | Nov 01, 2024 (157) |
| 89 | EVA | ss8237210069 | Nov 01, 2024 (157) |
| 90 | EVA | ss8237481911 | Nov 01, 2024 (157) |
| 91 | EVA | ss8237655808 | Nov 01, 2024 (157) |
| 92 | 1000G_HIGH_COVERAGE | ss8285090366 | Nov 01, 2024 (157) |
| 93 | EVA | ss8395326874 | Nov 01, 2024 (157) |
| 94 | HUGCELL_USP | ss8480549581 | Nov 01, 2024 (157) |
| 95 | EVA | ss8510129640 | Nov 01, 2024 (157) |
| 96 | EVA | ss8512473900 | Nov 01, 2024 (157) |
| 97 | 1000G_HIGH_COVERAGE | ss8579568576 | Nov 01, 2024 (157) |
| 98 | SANFORD_IMAGENETICS | ss8649887367 | Nov 01, 2024 (157) |
| 99 | TOMMO_GENOMICS | ss8745190776 | Nov 01, 2024 (157) |
| 100 | EVA | ss8799440878 | Nov 01, 2024 (157) |
| 101 | EVA | ss8800062050 | Nov 01, 2024 (157) |
| 102 | YY_MCH | ss8811792922 | Nov 01, 2024 (157) |
| 103 | EVA | ss8824808174 | Nov 01, 2024 (157) |
| 104 | EVA | ss8848304491 | Nov 01, 2024 (157) |
| 105 | EVA | ss8849697300 | Nov 01, 2024 (157) |
| 106 | EVA | ss8880088136 | Nov 01, 2024 (157) |
| 107 | EVA | ss8941173697 | Nov 01, 2024 (157) |
| 108 | EVA | ss8981728139 | Nov 01, 2024 (157) |
| 109 | EVA | ss8982040322 | Nov 01, 2024 (157) |
| 110 | 1000Genomes_30X | NC_000010.11 - 94842866 | Nov 01, 2024 (157) |
| 111 | gnomAD v4 - Exomes | NC_000010.11 - 94842866 | Nov 01, 2024 (157) |
| 112 | gnomAD v4 - Genomes | NC_000010.11 - 94842866 | Nov 01, 2024 (157) |
| 113 | HapMap | NC_000010.11 - 94842866 | Apr 26, 2020 (154) |
| 114 |
Korean Genome Project
Submission ignored due to conflicting rows: |
- | Apr 26, 2020 (154) |
| 115 |
Korean Genome Project
Submission ignored due to conflicting rows: |
- | Apr 26, 2020 (154) |
| 116 |
Korean Genome Project 4K
Submission ignored due to conflicting rows: |
- | Nov 01, 2024 (157) |
| 117 |
Korean Genome Project 4K
Submission ignored due to conflicting rows: |
- | Nov 01, 2024 (157) |
| 118 | 38KJPN | NC_000010.11 - 94842866 | Nov 01, 2024 (157) |
| 119 | TopMed | NC_000010.11 - 94842866 | Apr 26, 2021 (155) |
| 120 | ALFA | NC_000010.11 - 94842866 | Nov 01, 2024 (157) |
| 121 | ClinVar | RCV000948522.3 | Oct 16, 2022 (156) |
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) |
|---|---|
| rs17885635 | Mar 10, 2006 (126) |
| rs58435136 | May 24, 2008 (130) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss3968459559, ss6382290392 | NC_000010.11:94842865:A:C | NC_000010.11:94842865:A:C | (self) |
| ss207334512, ss491629948, ss1597478394 | NC_000010.9:96592612:G:G | NC_000010.11:94842865:A:G | (self) |
| ss235292788, ss241975999, ss342304131, ss491001647, ss491438616, ss657184747, ss987805106, ss1067514950, ss1077215885, ss1338626236, ss1584069483, ss1625197181, ss1668191214, ss1690012092, ss1711265782, ss1931171288, ss1959284965, ss2026313890, ss2154590560, ss2698843396, ss2738421027, ss2748441562, ss2892135736, ss3006967182, ss3021264892, ss3349261495, ss3646413625, ss3651623318, ss3674379182, ss3737586088, ss3748469012, ss3824540975, ss3874829030, ss3922957299, ss3983983383, ss3984639043, ss3986493471, ss6253829243, ss6307411548, ss6322395615, ss6332060858, ss6343187637, ss6350060564, ss6403982936, ss6404454513, ss8198971957, ss8237481911, ss8395326874, ss8510129640, ss8512473900, ss8649887367, ss8799440878, ss8800062050, ss8824808174, ss8848304491, ss8941173697, ss8981728139 | NC_000010.10:96602622:G:G | NC_000010.11:94842865:A:G | (self) |
| RCV000948522.3, 67094511, 35746525, 387033264, 468222, 131584105, 78195495, 9134769200, ss1457608662, ss2177153242, ss3026947019, ss3649441659, ss3649441660, ss3690462892, ss3813835450, ss3845153324, ss3968459558, ss4862649840, ss6114208285, ss6350134445, ss6350134446, ss6350134447, ss6350134448, ss6350134449, ss6350134450, ss6350134451, ss6350134452, ss6350134453, ss6350134454, ss6350134455, ss6350134456, ss6350134457, ss6382290391, ss6404050386, ss6440424686, ss6859897511, ss8236886082, ss8237210069, ss8237655808, ss8285090366, ss8480549581, ss8579568576, ss8745190776, ss8811792922, ss8849697300, ss8880088136, ss8982040322 | NC_000010.11:94842865:A:G | NC_000010.11:94842865:A:G | (self) |
| ss105439565 | NT_030059.13:47407085:CG:CG | NC_000010.11:94842865:A:G | (self) |
| ss4944613, ss28531457, ss32475267, ss71645826, ss76860183, ss79314157, ss410930003 | NT_030059.13:47407086:G:G | NC_000010.11:94842865:A:G | (self) |
| ss8512473900 | NC_000010.10:96602622:G:T | NC_000010.11:94842865:A:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 19164093 | Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects. | Matimba A et al. | 2009 | Human genomics |
| 21071160 | Analysis of 50 SNPs in CYP2D6, CYP2C19, CYP2C9, CYP3A4 and CYP1A2 by MALDI-TOF mass spectrometry in Chinese Han population. | Shi Y et al. | 2011 | Forensic science international |
| 21358751 | Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness. | Scott SA et al. | 2012 | The pharmacogenomics journal |
| 26323597 | Interindividual variability of CYP2C19-catalyzed drug metabolism due to differences in gene diplotypes and cytochrome P450 oxidoreductase content. | Shirasaka Y et al. | 2016 | The pharmacogenomics journal |
| 26781306 | Genotype‑phenotype analysis of CYP2C19 in the Tibetan population and its potential clinical implications in drug therapy. | Jin T et al. | 2016 | Molecular medicine reports |
| 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 |
| 27798644 | Detection of CYP2C19 Genetic Variants in Malaysian Orang Asli from Massively Parallel Sequencing Data. | Ang GY et al. | 2016 | PloS one |
| 28603633 | In vitro metabolism of exemestane by hepatic cytochrome P450s: impact of nonsynonymous polymorphisms on formation of the active metabolite 17β-dihydroexemestane. | Peterson A et al. | 2017 | Pharmacology research & perspectives |
| 28817838 | Pharmacogenetic determinants of outcomes on triplet hepatic artery infusion and intravenous cetuximab for liver metastases from colorectal cancer (European trial OPTILIV, NCT00852228). | Lévi F et al. | 2017 | British journal of cancer |
| 29472822 | Presence of a single nucleotide polymorphism (RS3758581) in a boy with DRESS syndrome. | Anil H et al. | 2017 | Central-European journal of immunology |
| 30135636 | The role of pharmacogenetics of cytochrome P450s in phenytoin-induced DRESS syndrome. | Yaşar Ü et al. | 2018 | Central-European journal of immunology |
| 30452466 | Characterization of ADME genes variation in Roma and 20 populations worldwide. | Škarić-Jurić T et al. | 2018 | PloS one |
| 31270413 | ||||
| 35134542 | CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project. | Gaedigk A et al. | 2022 | The Journal of molecular diagnostics |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.