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.
rs17884712
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr10:94775489 (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
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.0003761 (527/1401394, GnomAD_exomes)A=0.004318 (1143/264690, TOPMED)A=0.003639 (543/149208, GnomAD_genomes) (+ 8 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CYP2C19 : Missense Variant
- Publications
- 9 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 | 67550 | G=0.99806 | A=0.00194 | 0.996121 | 0.0 | 0.003879 | 0 |
| European | Sub | 49022 | G=0.99998 | A=0.00002 | 0.999959 | 0.0 | 0.000041 | 0 |
| African | Sub | 8398 | G=0.9859 | A=0.0141 | 0.971898 | 0.0 | 0.028102 | 1 |
| African Others | Sub | 306 | G=0.980 | A=0.020 | 0.960784 | 0.0 | 0.039216 | 0 |
| African American | Sub | 8092 | G=0.9862 | A=0.0138 | 0.972318 | 0.0 | 0.027682 | 0 |
| Asian | Sub | 168 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 112 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 56 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 500 | G=0.996 | A=0.004 | 0.992 | 0.0 | 0.008 | 0 |
| Latin American 2 | Sub | 628 | G=0.998 | A=0.002 | 0.996815 | 0.0 | 0.003185 | 0 |
| South Asian | Sub | 98 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 8736 | G=0.9990 | A=0.0010 | 0.99794 | 0.0 | 0.00206 | 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 |
|---|---|---|---|---|---|
| gnomAD v4 - Exomes | Global | Study-wide | 1401394 | G=0.9996239 | A=0.0003761 |
| gnomAD v4 - Exomes | European | Sub | 1165348 | G=0.9999768 | A=0.0000232 |
| gnomAD v4 - Exomes | South Asian | Sub | 86252 | G=0.99994 | A=0.00006 |
| gnomAD v4 - Exomes | American | Sub | 44720 | G=0.99926 | A=0.00074 |
| gnomAD v4 - Exomes | East Asian | Sub | 39700 | G=1.00000 | A=0.00000 |
| gnomAD v4 - Exomes | African | Sub | 33472 | G=0.98641 | A=0.01359 |
| gnomAD v4 - Exomes | Ashkenazi Jewish | Sub | 26134 | G=0.99985 | A=0.00015 |
| gnomAD v4 - Exomes | Middle Eastern | sub | 5768 | G=0.9995 | A=0.0005 |
| TopMed | Global | Study-wide | 264690 | G=0.995682 | A=0.004318 |
| gnomAD v4 - Genomes | Global | Study-wide | 149208 | G=0.996361 | A=0.003639 |
| gnomAD v4 - Genomes | European | Sub | 78594 | G=0.99996 | A=0.00004 |
| gnomAD v4 - Genomes | African | Sub | 41544 | G=0.98744 | A=0.01256 |
| gnomAD v4 - Genomes | American | Sub | 15302 | G=0.99882 | A=0.00118 |
| gnomAD v4 - Genomes | East Asian | Sub | 5182 | G=1.0000 | A=0.0000 |
| gnomAD v4 - Genomes | South Asian | Sub | 4822 | G=1.0000 | A=0.0000 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3470 | G=1.0000 | A=0.0000 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 294 | G=1.000 | A=0.000 |
| 38KJPN | JAPANESE | Study-wide | 77444 | G=0.99995 | A=0.00005 |
| Allele Frequency Aggregator | Total | Global | 67550 | G=0.99806 | A=0.00194 |
| Allele Frequency Aggregator | European | Sub | 49022 | G=0.99998 | A=0.00002 |
| Allele Frequency Aggregator | Other | Sub | 8736 | G=0.9990 | A=0.0010 |
| Allele Frequency Aggregator | African | Sub | 8398 | G=0.9859 | A=0.0141 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 628 | G=0.998 | A=0.002 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 500 | G=0.996 | A=0.004 |
| Allele Frequency Aggregator | Asian | Sub | 168 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=1.00 | A=0.00 |
| GO Exome Sequencing Project | Global | Study-wide | 13000 | G=0.99608 | A=0.00392 |
| GO Exome Sequencing Project | European American | Sub | 8594 | G=1.0000 | A=0.0000 |
| GO Exome Sequencing Project | African American | Sub | 4406 | G=0.9884 | A=0.0116 |
| 1000Genomes_30X | Global | Study-wide | 6404 | G=0.9969 | A=0.0031 |
| 1000Genomes_30X | African | Sub | 1786 | G=0.9899 | A=0.0101 |
| 1000Genomes_30X | Europe | Sub | 1266 | G=1.0000 | A=0.0000 |
| 1000Genomes_30X | South Asian | Sub | 1202 | G=1.0000 | A=0.0000 |
| 1000Genomes_30X | East Asian | Sub | 1170 | G=1.0000 | A=0.0000 |
| 1000Genomes_30X | American | Sub | 980 | G=0.998 | A=0.002 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.9972 | A=0.0028 |
| 1000Genomes | African | Sub | 1322 | G=0.9902 | A=0.0098 |
| 1000Genomes | East Asian | Sub | 1008 | G=1.0000 | A=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | G=1.0000 | A=0.0000 |
| 1000Genomes | South Asian | Sub | 978 | G=1.000 | A=0.000 |
| 1000Genomes | American | Sub | 694 | G=0.999 | A=0.001 |
| PharmGKB Aggregated | Global | Study-wide | 358 | G=0.992 | A=0.008 |
| PharmGKB Aggregated | PA150055187 | Sub | 358 | G=0.992 | A=0.008 |
| SGDP_PRJ | Global | Study-wide | 4 | G=0.5 | A=0.5 |
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 10 | NC_000010.11:g.94775489G>A |
| GRCh38.p14 chr 10 | NC_000010.11:g.94775489G>C |
| GRCh37.p13 chr 10 | NC_000010.10:g.96535246G>A |
| GRCh37.p13 chr 10 | NC_000010.10:g.96535246G>C |
| CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.17809G>A |
| CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.17809G>C |
Gene: CYP2C19, cytochrome P450 family 2 subfamily C member 19
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CYP2C19 transcript | NM_000769.4:c.431G>A | R [CGT] > H [CAT] | Coding Sequence Variant |
| cytochrome P450 2C19 | NP_000760.1:p.Arg144His | R (Arg) > H (His) | Missense Variant |
| CYP2C19 transcript | NM_000769.4:c.431G>C | R [CGT] > P [CCT] | Coding Sequence Variant |
| cytochrome P450 2C19 | NP_000760.1:p.Arg144Pro | R (Arg) > P (Pro) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: A (allele ID:
47950
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000782612.10 | Citalopram response | Drug-Response |
| RCV000782613.10 | Escitalopram response | Drug-Response |
| RCV000782614.10 | Citalopram response | Drug-Response |
| RCV000782615.10 | Escitalopram response | Drug-Response |
| RCV000782616.10 | Citalopram response | Drug-Response |
| RCV000782617.10 | Escitalopram response | Drug-Response |
| RCV000782618.10 | Citalopram response | Drug-Response |
| RCV000782619.10 | Escitalopram response | Drug-Response |
| RCV000782620.10 | Citalopram response | Drug-Response |
| RCV000782621.10 | Escitalopram response | Drug-Response |
| RCV000782622.10 | Citalopram response | Drug-Response |
| RCV000782623.10 | Escitalopram response | Drug-Response |
| RCV000782624.10 | Citalopram response | Drug-Response |
| RCV000782625.10 | Escitalopram response | Drug-Response |
| RCV000782639.10 | Citalopram response | Drug-Response |
| RCV000782640.10 | Escitalopram response | Drug-Response |
| RCV000782663.10 | Citalopram response | Drug-Response |
| RCV000782664.10 | Escitalopram response | Drug-Response |
| RCV000782667.10 | Citalopram response | Drug-Response |
| RCV000782668.10 | Escitalopram response | Drug-Response |
| RCV000782687.10 | Citalopram response | Drug-Response |
| RCV000782688.10 | Escitalopram response | Drug-Response |
| RCV000782689.10 | Citalopram response | Drug-Response |
| RCV000783041.10 | Escitalopram response | Drug-Response |
| RCV000783042.10 | Citalopram response | Drug-Response |
| RCV000783043.10 | Escitalopram response | Drug-Response |
| RCV000783044.10 | Citalopram response | Drug-Response |
| RCV000783045.10 | Escitalopram response | Drug-Response |
| RCV000783046.10 | Citalopram response | Drug-Response |
| RCV000783047.10 | Escitalopram response | Drug-Response |
| RCV000783048.10 | Citalopram response | Drug-Response |
| RCV000783107.10 | Sertraline response | Drug-Response |
| RCV000783130.10 | Sertraline response | Drug-Response |
| RCV000783131.11 | Sertraline response | Drug-Response |
| RCV000783132.10 | Sertraline response | Drug-Response |
| RCV000783133.10 | Sertraline response | Drug-Response |
| RCV000783134.10 | Sertraline response | Drug-Response |
| RCV000783135.10 | Sertraline response | Drug-Response |
| RCV000783136.10 | Sertraline response | Drug-Response |
| RCV000783137.11 | Sertraline response | Drug-Response |
| RCV000783145.10 | Sertraline response | Drug-Response |
| RCV000783149.10 | Sertraline response | Drug-Response |
| RCV000783159.10 | Sertraline response | Drug-Response |
| RCV000783163.10 | Sertraline response | Drug-Response |
| RCV000783169.10 | Sertraline response | Drug-Response |
| RCV000783170.10 | Sertraline response | Drug-Response |
| RCV000783350.10 | Sertraline response | Drug-Response |
| RCV000783351.10 | Sertraline response | Drug-Response |
| RCV000783352.10 | Sertraline response | Drug-Response |
| RCV000783498.10 | Voriconazole response | Drug-Response |
| RCV000783499.10 | Voriconazole response | Drug-Response |
| RCV000783542.10 | Voriconazole response | Drug-Response |
| RCV000783563.10 | Voriconazole response | Drug-Response |
| RCV000783564.10 | Voriconazole response | Drug-Response |
| RCV000783565.10 | Voriconazole response | Drug-Response |
| RCV000783566.10 | Voriconazole response | Drug-Response |
| RCV000783567.10 | Voriconazole response | Drug-Response |
| RCV000783568.11 | Voriconazole response | Drug-Response |
| RCV000783569.10 | Voriconazole response | Drug-Response |
| RCV000783570.10 | Voriconazole response | Drug-Response |
| RCV000783584.10 | Voriconazole response | Drug-Response |
| RCV000783588.10 | Voriconazole response | Drug-Response |
| RCV000783594.10 | Voriconazole response | Drug-Response |
| RCV000783598.10 | Voriconazole response | Drug-Response |
| RCV000783660.9 | CYP2C19: decreased function | Drug-Response |
| RCV000783795.10 | Citalopram response | Drug-Response |
| RCV000783796.10 | Escitalopram response | Drug-Response |
| RCV000783844.10 | Citalopram response | Drug-Response |
| RCV000783845.10 | Escitalopram response | Drug-Response |
| RCV000783846.10 | Citalopram response | Drug-Response |
| RCV000783847.10 | Escitalopram response | Drug-Response |
| RCV000783848.11 | Citalopram response | Drug-Response |
| RCV000783849.11 | Escitalopram response | Drug-Response |
| RCV000783850.10 | Citalopram response | Drug-Response |
| RCV000783851.10 | Escitalopram response | Drug-Response |
| RCV000783852.11 | Citalopram response | Drug-Response |
| RCV000783853.11 | Escitalopram response | Drug-Response |
| RCV000783882.10 | Citalopram response | Drug-Response |
| RCV000783883.10 | Escitalopram response | Drug-Response |
| RCV000783886.9 | Citalopram response | Drug-Response |
| RCV000783887.9 | Escitalopram response | Drug-Response |
| RCV000783906.10 | Citalopram response | Drug-Response |
| RCV000783907.10 | Escitalopram response | Drug-Response |
| RCV000783910.10 | Citalopram response | Drug-Response |
| RCV000783911.10 | Escitalopram response | Drug-Response |
| RCV000783917.10 | Escitalopram response | Drug-Response |
| RCV000783918.10 | Citalopram response | Drug-Response |
| RCV000783919.10 | Escitalopram response | Drug-Response |
| RCV000783920.10 | Citalopram response | Drug-Response |
| RCV000783921.10 | Escitalopram response | Drug-Response |
| RCV000784273.10 | Citalopram response | Drug-Response |
| RCV000784274.10 | Escitalopram response | Drug-Response |
| RCV000784275.10 | Citalopram response | Drug-Response |
| RCV000784276.10 | Escitalopram response | Drug-Response |
| RCV000784277.10 | Citalopram response | Drug-Response |
| RCV000784278.10 | Escitalopram response | Drug-Response |
| RCV000784279.10 | Citalopram response | Drug-Response |
| RCV000784280.10 | Escitalopram response | Drug-Response |
| RCV000784281.10 | Citalopram response | Drug-Response |
| RCV000784282.10 | Escitalopram response | Drug-Response |
| RCV000784283.10 | Citalopram response | Drug-Response |
| RCV000784284.10 | Escitalopram response | Drug-Response |
| RCV000784365.10 | Sertraline response | Drug-Response |
| RCV000784366.10 | Sertraline response | Drug-Response |
| RCV000784367.10 | Sertraline response | Drug-Response |
| RCV000784368.10 | Sertraline response | Drug-Response |
| RCV000784385.9 | Sertraline response | Drug-Response |
| RCV000784391.10 | Sertraline response | Drug-Response |
| RCV000784395.10 | Sertraline response | Drug-Response |
| RCV000784401.10 | Sertraline response | Drug-Response |
| RCV000784402.10 | Sertraline response | Drug-Response |
| RCV000784582.10 | Sertraline response | Drug-Response |
| RCV000784583.10 | Sertraline response | Drug-Response |
| RCV000784584.10 | Sertraline response | Drug-Response |
| RCV000784585.10 | Sertraline response | Drug-Response |
| RCV000784586.10 | Sertraline response | Drug-Response |
| RCV000784587.10 | Sertraline response | Drug-Response |
| RCV000784588.10 | Sertraline response | Drug-Response |
| RCV000784729.10 | Voriconazole response | Drug-Response |
| RCV000784730.10 | Voriconazole response | Drug-Response |
| RCV000784731.10 | Voriconazole response | Drug-Response |
| RCV000784732.10 | Voriconazole response | Drug-Response |
| RCV000784733.10 | Voriconazole response | Drug-Response |
| RCV000784734.10 | Voriconazole response | Drug-Response |
| RCV000784735.10 | Voriconazole response | Drug-Response |
| RCV000784736.10 | Voriconazole response | Drug-Response |
| RCV000784790.10 | Voriconazole response | Drug-Response |
| RCV000784791.10 | Voriconazole response | Drug-Response |
| RCV000784798.10 | Voriconazole response | Drug-Response |
| RCV000784808.9 | Voriconazole response | Drug-Response |
| RCV000784818.10 | Voriconazole response | Drug-Response |
| RCV000784822.10 | Voriconazole response | Drug-Response |
| RCV000784823.10 | Voriconazole response | Drug-Response |
| RCV000784824.10 | Voriconazole response | Drug-Response |
| RCV000784825.10 | Voriconazole response | Drug-Response |
| RCV000784874.10 | Voriconazole response | Drug-Response |
| RCV000784885.11 | Voriconazole response | Drug-Response |
| RCV001770046.10 | not provided | 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 | G= | A | C |
|---|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.94775489= | NC_000010.11:g.94775489G>A | NC_000010.11:g.94775489G>C |
| GRCh37.p13 chr 10 | NC_000010.10:g.96535246= | NC_000010.10:g.96535246G>A | NC_000010.10:g.96535246G>C |
| CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.17809= | NG_008384.3:g.17809G>A | NG_008384.3:g.17809G>C |
| CYP2C19 transcript | NM_000769.4:c.431= | NM_000769.4:c.431G>A | NM_000769.4:c.431G>C |
| CYP2C19 transcript | NM_000769.3:c.431= | NM_000769.3:c.431G>A | NM_000769.3:c.431G>C |
| CYP2C19 transcript | NM_000769.2:c.431= | NM_000769.2:c.431G>A | NM_000769.2:c.431G>C |
| CYP2C19 transcript | NM_000769.1:c.431= | NM_000769.1:c.431G>A | NM_000769.1:c.431G>C |
| cytochrome P450 2C19 | NP_000760.1:p.Arg144= | NP_000760.1:p.Arg144His | NP_000760.1:p.Arg144Pro |
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#.
41 SubSNP,
12 Frequency,
138 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EGP_SNPS | ss28531427 | Dec 02, 2004 (124) |
| 2 | PHARMGKB_AB_DME | ss84155568 | Dec 15, 2007 (130) |
| 3 | BUSHMAN | ss201885315 | Jul 04, 2010 (132) |
| 4 | 1000GENOMES | ss336317596 | May 09, 2011 (134) |
| 5 | NHLBI-ESP | ss342304110 | May 09, 2011 (134) |
| 6 | 1000GENOMES | ss491001634 | May 04, 2012 (137) |
| 7 | EXOME_CHIP | ss491438607 | May 04, 2012 (137) |
| 8 | CLINVAR | ss831879134 | Oct 12, 2018 (152) |
| 9 | JMKIDD_LAB | ss1067514942 | Aug 21, 2014 (142) |
| 10 | JMKIDD_LAB | ss1077215408 | Aug 21, 2014 (142) |
| 11 | 1000GENOMES | ss1338623589 | Aug 21, 2014 (142) |
| 12 | EVA_EXAC | ss1690011850 | Apr 01, 2015 (144) |
| 13 | EVA_EXAC | ss1690011851 | Apr 01, 2015 (144) |
| 14 | HUMAN_LONGEVITY | ss2177148221 | Dec 20, 2016 (150) |
| 15 | GNOMAD | ss2738420721 | Nov 08, 2017 (151) |
| 16 | GNOMAD | ss2748441474 | Nov 08, 2017 (151) |
| 17 | GNOMAD | ss2892128035 | Nov 08, 2017 (151) |
| 18 | AFFY | ss2984919984 | Nov 08, 2017 (151) |
| 19 | AFFY | ss2985568270 | Nov 08, 2017 (151) |
| 20 | CSIRBIOHTS | ss3029638024 | Nov 08, 2017 (151) |
| 21 | ILLUMINA | ss3653690719 | Oct 12, 2018 (152) |
| 22 | EVA | ss3824540929 | Apr 26, 2020 (154) |
| 23 | SGDP_PRJ | ss3874827575 | Apr 26, 2020 (154) |
| 24 | EVA | ss3986493458 | Apr 26, 2021 (155) |
| 25 | TOPMED | ss4862626915 | Apr 26, 2021 (155) |
| 26 | TOMMO_GENOMICS | ss6114201599 | Nov 01, 2024 (157) |
| 27 | EVA | ss6253826626 | Nov 01, 2024 (157) |
| 28 | EVA | ss6307410201 | Nov 01, 2024 (157) |
| 29 | GNOMAD | ss6440423280 | Nov 01, 2024 (157) |
| 30 | GNOMAD | ss6859878018 | Nov 01, 2024 (157) |
| 31 | TOMMO_GENOMICS | ss8198969057 | Nov 01, 2024 (157) |
| 32 | 1000G_HIGH_COVERAGE | ss8285087935 | Nov 01, 2024 (157) |
| 33 | EVA | ss8395323221 | Nov 01, 2024 (157) |
| 34 | HUGCELL_USP | ss8480547908 | Nov 01, 2024 (157) |
| 35 | EVA | ss8512473894 | Nov 01, 2024 (157) |
| 36 | 1000G_HIGH_COVERAGE | ss8579564849 | Nov 01, 2024 (157) |
| 37 | SANFORD_IMAGENETICS | ss8649885919 | Nov 01, 2024 (157) |
| 38 | TOMMO_GENOMICS | ss8745186771 | Nov 01, 2024 (157) |
| 39 | EVA | ss8880085936 | Nov 01, 2024 (157) |
| 40 | EVA | ss8941172470 | Nov 01, 2024 (157) |
| 41 | EVA | ss8979335324 | Nov 01, 2024 (157) |
| 42 | 1000Genomes | NC_000010.10 - 96535246 | Oct 12, 2018 (152) |
| 43 | 1000Genomes_30X | NC_000010.11 - 94775489 | Nov 01, 2024 (157) |
| 44 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 45 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 46 | gnomAD v4 - Exomes | NC_000010.11 - 94775489 | Nov 01, 2024 (157) |
| 47 | gnomAD v4 - Genomes | NC_000010.11 - 94775489 | Nov 01, 2024 (157) |
| 48 | GO Exome Sequencing Project | NC_000010.10 - 96535246 | Oct 12, 2018 (152) |
| 49 | PharmGKB Aggregated | NC_000010.11 - 94775489 | Apr 26, 2020 (154) |
| 50 | SGDP_PRJ | NC_000010.10 - 96535246 | Apr 26, 2020 (154) |
| 51 | 38KJPN | NC_000010.11 - 94775489 | Nov 01, 2024 (157) |
| 52 | TopMed | NC_000010.11 - 94775489 | Apr 26, 2021 (155) |
| 53 | ALFA | NC_000010.11 - 94775489 | Nov 01, 2024 (157) |
| 54 | ClinVar | RCV000782612.10 | Nov 01, 2024 (157) |
| 55 | ClinVar | RCV000782613.10 | Nov 01, 2024 (157) |
| 56 | ClinVar | RCV000782614.10 | Nov 01, 2024 (157) |
| 57 | ClinVar | RCV000782615.10 | Nov 01, 2024 (157) |
| 58 | ClinVar | RCV000782616.10 | Nov 01, 2024 (157) |
| 59 | ClinVar | RCV000782617.10 | Nov 01, 2024 (157) |
| 60 | ClinVar | RCV000782618.10 | Nov 01, 2024 (157) |
| 61 | ClinVar | RCV000782619.10 | Nov 01, 2024 (157) |
| 62 | ClinVar | RCV000782620.10 | Nov 01, 2024 (157) |
| 63 | ClinVar | RCV000782621.10 | Nov 01, 2024 (157) |
| 64 | ClinVar | RCV000782622.10 | Nov 01, 2024 (157) |
| 65 | ClinVar | RCV000782623.10 | Nov 01, 2024 (157) |
| 66 | ClinVar | RCV000782624.10 | Nov 01, 2024 (157) |
| 67 | ClinVar | RCV000782625.10 | Nov 01, 2024 (157) |
| 68 | ClinVar | RCV000782639.10 | Nov 01, 2024 (157) |
| 69 | ClinVar | RCV000782640.10 | Nov 01, 2024 (157) |
| 70 | ClinVar | RCV000782663.10 | Nov 01, 2024 (157) |
| 71 | ClinVar | RCV000782664.10 | Nov 01, 2024 (157) |
| 72 | ClinVar | RCV000782667.10 | Nov 01, 2024 (157) |
| 73 | ClinVar | RCV000782668.10 | Nov 01, 2024 (157) |
| 74 | ClinVar | RCV000782687.10 | Nov 01, 2024 (157) |
| 75 | ClinVar | RCV000782688.10 | Nov 01, 2024 (157) |
| 76 | ClinVar | RCV000782689.10 | Nov 01, 2024 (157) |
| 77 | ClinVar | RCV000783041.10 | Nov 01, 2024 (157) |
| 78 | ClinVar | RCV000783042.10 | Nov 01, 2024 (157) |
| 79 | ClinVar | RCV000783043.10 | Nov 01, 2024 (157) |
| 80 | ClinVar | RCV000783044.10 | Nov 01, 2024 (157) |
| 81 | ClinVar | RCV000783045.10 | Nov 01, 2024 (157) |
| 82 | ClinVar | RCV000783046.10 | Nov 01, 2024 (157) |
| 83 | ClinVar | RCV000783047.10 | Nov 01, 2024 (157) |
| 84 | ClinVar | RCV000783048.10 | Nov 01, 2024 (157) |
| 85 | ClinVar | RCV000783107.10 | Nov 01, 2024 (157) |
| 86 | ClinVar | RCV000783130.10 | Nov 01, 2024 (157) |
| 87 | ClinVar | RCV000783131.11 | Nov 01, 2024 (157) |
| 88 | ClinVar | RCV000783132.10 | Nov 01, 2024 (157) |
| 89 | ClinVar | RCV000783133.10 | Nov 01, 2024 (157) |
| 90 | ClinVar | RCV000783134.10 | Nov 01, 2024 (157) |
| 91 | ClinVar | RCV000783135.10 | Nov 01, 2024 (157) |
| 92 | ClinVar | RCV000783136.10 | Nov 01, 2024 (157) |
| 93 | ClinVar | RCV000783137.11 | Nov 01, 2024 (157) |
| 94 | ClinVar | RCV000783145.10 | Nov 01, 2024 (157) |
| 95 | ClinVar | RCV000783149.10 | Nov 01, 2024 (157) |
| 96 | ClinVar | RCV000783159.10 | Nov 01, 2024 (157) |
| 97 | ClinVar | RCV000783163.10 | Nov 01, 2024 (157) |
| 98 | ClinVar | RCV000783169.10 | Nov 01, 2024 (157) |
| 99 | ClinVar | RCV000783170.10 | Nov 01, 2024 (157) |
| 100 | ClinVar | RCV000783350.10 | Nov 01, 2024 (157) |
| 101 | ClinVar | RCV000783351.10 | Nov 01, 2024 (157) |
| 102 | ClinVar | RCV000783352.10 | Nov 01, 2024 (157) |
| 103 | ClinVar | RCV000783498.10 | Nov 01, 2024 (157) |
| 104 | ClinVar | RCV000783499.10 | Nov 01, 2024 (157) |
| 105 | ClinVar | RCV000783542.10 | Nov 01, 2024 (157) |
| 106 | ClinVar | RCV000783563.10 | Nov 01, 2024 (157) |
| 107 | ClinVar | RCV000783564.10 | Nov 01, 2024 (157) |
| 108 | ClinVar | RCV000783565.10 | Nov 01, 2024 (157) |
| 109 | ClinVar | RCV000783566.10 | Nov 01, 2024 (157) |
| 110 | ClinVar | RCV000783567.10 | Nov 01, 2024 (157) |
| 111 | ClinVar | RCV000783568.11 | Nov 01, 2024 (157) |
| 112 | ClinVar | RCV000783569.10 | Nov 01, 2024 (157) |
| 113 | ClinVar | RCV000783570.10 | Nov 01, 2024 (157) |
| 114 | ClinVar | RCV000783584.10 | Nov 01, 2024 (157) |
| 115 | ClinVar | RCV000783588.10 | Nov 01, 2024 (157) |
| 116 | ClinVar | RCV000783594.10 | Nov 01, 2024 (157) |
| 117 | ClinVar | RCV000783598.10 | Nov 01, 2024 (157) |
| 118 | ClinVar | RCV000783660.9 | Nov 01, 2024 (157) |
| 119 | ClinVar | RCV000783795.10 | Nov 01, 2024 (157) |
| 120 | ClinVar | RCV000783796.10 | Nov 01, 2024 (157) |
| 121 | ClinVar | RCV000783844.10 | Nov 01, 2024 (157) |
| 122 | ClinVar | RCV000783845.10 | Nov 01, 2024 (157) |
| 123 | ClinVar | RCV000783846.10 | Nov 01, 2024 (157) |
| 124 | ClinVar | RCV000783847.10 | Nov 01, 2024 (157) |
| 125 | ClinVar | RCV000783848.11 | Nov 01, 2024 (157) |
| 126 | ClinVar | RCV000783849.11 | Nov 01, 2024 (157) |
| 127 | ClinVar | RCV000783850.10 | Nov 01, 2024 (157) |
| 128 | ClinVar | RCV000783851.10 | Nov 01, 2024 (157) |
| 129 | ClinVar | RCV000783852.11 | Nov 01, 2024 (157) |
| 130 | ClinVar | RCV000783853.11 | Nov 01, 2024 (157) |
| 131 | ClinVar | RCV000783882.10 | Nov 01, 2024 (157) |
| 132 | ClinVar | RCV000783883.10 | Nov 01, 2024 (157) |
| 133 | ClinVar | RCV000783886.9 | Nov 01, 2024 (157) |
| 134 | ClinVar | RCV000783887.9 | Nov 01, 2024 (157) |
| 135 | ClinVar | RCV000783906.10 | Nov 01, 2024 (157) |
| 136 | ClinVar | RCV000783907.10 | Nov 01, 2024 (157) |
| 137 | ClinVar | RCV000783910.10 | Nov 01, 2024 (157) |
| 138 | ClinVar | RCV000783911.10 | Nov 01, 2024 (157) |
| 139 | ClinVar | RCV000783917.10 | Nov 01, 2024 (157) |
| 140 | ClinVar | RCV000783918.10 | Nov 01, 2024 (157) |
| 141 | ClinVar | RCV000783919.10 | Nov 01, 2024 (157) |
| 142 | ClinVar | RCV000783920.10 | Nov 01, 2024 (157) |
| 143 | ClinVar | RCV000783921.10 | Nov 01, 2024 (157) |
| 144 | ClinVar | RCV000784273.10 | Nov 01, 2024 (157) |
| 145 | ClinVar | RCV000784274.10 | Nov 01, 2024 (157) |
| 146 | ClinVar | RCV000784275.10 | Nov 01, 2024 (157) |
| 147 | ClinVar | RCV000784276.10 | Nov 01, 2024 (157) |
| 148 | ClinVar | RCV000784277.10 | Nov 01, 2024 (157) |
| 149 | ClinVar | RCV000784278.10 | Nov 01, 2024 (157) |
| 150 | ClinVar | RCV000784279.10 | Nov 01, 2024 (157) |
| 151 | ClinVar | RCV000784280.10 | Nov 01, 2024 (157) |
| 152 | ClinVar | RCV000784281.10 | Nov 01, 2024 (157) |
| 153 | ClinVar | RCV000784282.10 | Nov 01, 2024 (157) |
| 154 | ClinVar | RCV000784283.10 | Nov 01, 2024 (157) |
| 155 | ClinVar | RCV000784284.10 | Nov 01, 2024 (157) |
| 156 | ClinVar | RCV000784365.10 | Nov 01, 2024 (157) |
| 157 | ClinVar | RCV000784366.10 | Nov 01, 2024 (157) |
| 158 | ClinVar | RCV000784367.10 | Nov 01, 2024 (157) |
| 159 | ClinVar | RCV000784368.10 | Nov 01, 2024 (157) |
| 160 | ClinVar | RCV000784385.9 | Nov 01, 2024 (157) |
| 161 | ClinVar | RCV000784391.10 | Nov 01, 2024 (157) |
| 162 | ClinVar | RCV000784395.10 | Nov 01, 2024 (157) |
| 163 | ClinVar | RCV000784401.10 | Nov 01, 2024 (157) |
| 164 | ClinVar | RCV000784402.10 | Nov 01, 2024 (157) |
| 165 | ClinVar | RCV000784582.10 | Nov 01, 2024 (157) |
| 166 | ClinVar | RCV000784583.10 | Nov 01, 2024 (157) |
| 167 | ClinVar | RCV000784584.10 | Nov 01, 2024 (157) |
| 168 | ClinVar | RCV000784585.10 | Nov 01, 2024 (157) |
| 169 | ClinVar | RCV000784586.10 | Nov 01, 2024 (157) |
| 170 | ClinVar | RCV000784587.10 | Nov 01, 2024 (157) |
| 171 | ClinVar | RCV000784588.10 | Nov 01, 2024 (157) |
| 172 | ClinVar | RCV000784729.10 | Nov 01, 2024 (157) |
| 173 | ClinVar | RCV000784730.10 | Nov 01, 2024 (157) |
| 174 | ClinVar | RCV000784731.10 | Nov 01, 2024 (157) |
| 175 | ClinVar | RCV000784732.10 | Nov 01, 2024 (157) |
| 176 | ClinVar | RCV000784733.10 | Nov 01, 2024 (157) |
| 177 | ClinVar | RCV000784734.10 | Nov 01, 2024 (157) |
| 178 | ClinVar | RCV000784735.10 | Nov 01, 2024 (157) |
| 179 | ClinVar | RCV000784736.10 | Nov 01, 2024 (157) |
| 180 | ClinVar | RCV000784790.10 | Nov 01, 2024 (157) |
| 181 | ClinVar | RCV000784791.10 | Nov 01, 2024 (157) |
| 182 | ClinVar | RCV000784798.10 | Nov 01, 2024 (157) |
| 183 | ClinVar | RCV000784808.9 | Nov 01, 2024 (157) |
| 184 | ClinVar | RCV000784818.10 | Nov 01, 2024 (157) |
| 185 | ClinVar | RCV000784822.10 | Nov 01, 2024 (157) |
| 186 | ClinVar | RCV000784823.10 | Nov 01, 2024 (157) |
| 187 | ClinVar | RCV000784824.10 | Nov 01, 2024 (157) |
| 188 | ClinVar | RCV000784825.10 | Nov 01, 2024 (157) |
| 189 | ClinVar | RCV000784874.10 | Nov 01, 2024 (157) |
| 190 | ClinVar | RCV000784885.11 | Nov 01, 2024 (157) |
| 191 | ClinVar | RCV001770046.10 | Nov 01, 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) |
|---|---|
| rs59525653 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss201885315 | NC_000010.9:96525235:G:A | NC_000010.11:94775488:G:A | (self) |
| 51055016, 998612, 26844555, ss336317596, ss342304110, ss491001634, ss491438607, ss1067514942, ss1077215408, ss1338623589, ss1690011850, ss2738420721, ss2748441474, ss2892128035, ss2984919984, ss2985568270, ss3029638024, ss3653690719, ss3824540929, ss3874827575, ss3986493458, ss6253826626, ss6307410201, ss8198969057, ss8395323221, ss8512473894, ss8649885919, ss8941172470, ss8979335324 | NC_000010.10:96535245:G:A | NC_000010.11:94775488:G:A | (self) |
| RCV000782612.10, RCV000782613.10, RCV000782614.10, RCV000782615.10, RCV000782616.10, RCV000782617.10, RCV000782618.10, RCV000782619.10, RCV000782620.10, RCV000782621.10, RCV000782622.10, RCV000782623.10, RCV000782624.10, RCV000782625.10, RCV000782639.10, RCV000782640.10, RCV000782663.10, RCV000782664.10, RCV000782667.10, RCV000782668.10, RCV000782687.10, RCV000782688.10, RCV000782689.10, RCV000783041.10, RCV000783042.10, RCV000783043.10, RCV000783044.10, RCV000783045.10, RCV000783046.10, RCV000783047.10, RCV000783048.10, RCV000783107.10, RCV000783130.10, RCV000783131.11, RCV000783132.10, RCV000783133.10, RCV000783134.10, RCV000783135.10, RCV000783136.10, RCV000783137.11, RCV000783145.10, RCV000783149.10, RCV000783159.10, RCV000783163.10, RCV000783169.10, RCV000783170.10, RCV000783350.10, RCV000783351.10, RCV000783352.10, RCV000783498.10, RCV000783499.10, RCV000783542.10, RCV000783563.10, RCV000783564.10, RCV000783565.10, RCV000783566.10, RCV000783567.10, RCV000783568.11, RCV000783569.10, RCV000783570.10, RCV000783584.10, RCV000783588.10, RCV000783594.10, RCV000783598.10, RCV000783660.9, RCV000783795.10, RCV000783796.10, RCV000783844.10, RCV000783845.10, RCV000783846.10, RCV000783847.10, RCV000783848.11, RCV000783849.11, RCV000783850.10, RCV000783851.10, RCV000783852.11, RCV000783853.11, RCV000783882.10, RCV000783883.10, RCV000783886.9, RCV000783887.9, RCV000783906.10, RCV000783907.10, RCV000783910.10, RCV000783911.10, RCV000783917.10, RCV000783918.10, RCV000783919.10, RCV000783920.10, RCV000783921.10, RCV000784273.10, RCV000784274.10, RCV000784275.10, RCV000784276.10, RCV000784277.10, RCV000784278.10, RCV000784279.10, RCV000784280.10, RCV000784281.10, RCV000784282.10, RCV000784283.10, RCV000784284.10, RCV000784365.10, RCV000784366.10, RCV000784367.10, RCV000784368.10, RCV000784385.9, RCV000784391.10, RCV000784395.10, RCV000784401.10, RCV000784402.10, RCV000784582.10, RCV000784583.10, RCV000784584.10, RCV000784585.10, RCV000784586.10, RCV000784587.10, RCV000784588.10, RCV000784729.10, RCV000784730.10, RCV000784731.10, RCV000784732.10, RCV000784733.10, RCV000784734.10, RCV000784735.10, RCV000784736.10, RCV000784790.10, RCV000784791.10, RCV000784798.10, RCV000784808.9, RCV000784818.10, RCV000784822.10, RCV000784823.10, RCV000784824.10, RCV000784825.10, RCV000784874.10, RCV000784885.11, RCV001770046.10, 67090784, 35745119, 387013763, 1135, 131577419, 78172570, 1749307455, ss831879134, ss2177148221, ss4862626915, ss6114201599, ss6440423280, ss6859878018, ss8285087935, ss8480547908, ss8579564849, ss8745186771, ss8880085936 | NC_000010.11:94775488:G:A | NC_000010.11:94775488:G:A | (self) |
| ss28531427, ss84155568 | NT_030059.13:47339709:G:A | NC_000010.11:94775488:G:A | (self) |
| ss1690011851 | NC_000010.10:96535245:G:C | NC_000010.11:94775488:G:C | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
9
citations for rs17884712
| 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 |
| 24340040 | Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy. | Preissner SC et al. | 2013 | PloS one |
| 30093869 | Biological Predictors of Clozapine Response: A Systematic Review. | Samanaite R et al. | 2018 | Frontiers in psychiatry |
| 33875422 | Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment. | Pernaute-Lau L et al. | 2021 | Antimicrobial agents and chemotherapy |
| 34621706 | Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. | Kim B et al. | 2021 | Translational and clinical pharmacology |
| 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 |
| 35089958 | Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population. | Goljan E et al. | 2022 | PloS one |
| 35761855 | Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective. | Nthontho KC et al. | 2022 | Pharmacogenomics and personalized medicine |
| 36164570 | Prevalence of exposure to pharmacogenetic drugs by the Saudis treated at the health care centers of the Ministry of National Guard. | Alshabeeb MA et al. | 2022 | Saudi pharmaceutical journal |
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
Top▲
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.