Name: rs17879685
Published: September 3, 2024
License: Open Access

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.

rs17879685

Current Build 157

Released September 3, 2024

Organism: Homo sapiens
Position: chr10:94849995 (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 / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.000923 (269/291570, ALFA)
T=0.005440 (1440/264690, TOPMED)
T=0.004699 (701/149168, GnomAD_genomes) (+ 8 more)
T=0.001517 (184/121284, ExAC)
T=0.00592 (77/13006, GO-ESP)
T=0.0059 (38/6404, 1000G_30X)
T=0.0056 (28/5008, 1000G)
T=0.020 (18/890, HapMap)
T=0.006 (2/356, PharmGKB)
C=0.5 (3/6, SGDP_PRJ)
T=0.5 (3/6, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CYP2C19 : Missense Variant
Publications: 6 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	291570	C=0.999077	T=0.000923	0.998162	7e-06	0.001831	4
European	Sub	243690	C=0.999984	T=0.000016	0.999967	0.0	0.000033	0
African	Sub	14914	C=0.98397	T=0.01603	0.968084	0.000134	0.031782	0
African Others	Sub	538	C=0.972	T=0.028	0.944238	0.0	0.055762	0
African American	Sub	14376	C=0.98442	T=0.01558	0.968976	0.000139	0.030885	0
Asian	Sub	6898	C=1.0000	T=0.0000	1.0	0.0	0.0	N/A
East Asian	Sub	4944	C=1.0000	T=0.0000	1.0	0.0	0.0	N/A
Other Asian	Sub	1954	C=1.0000	T=0.0000	1.0	0.0	0.0	N/A
Latin American 1	Sub	1318	C=0.9924	T=0.0076	0.984825	0.0	0.015175	0
Latin American 2	Sub	2528	C=1.0000	T=0.0000	1.0	0.0	0.0	N/A
South Asian	Sub	366	C=1.000	T=0.000	1.0	0.0	0.0	N/A
Other	Sub	21856	C=0.99927	T=0.00073	0.998536	0.0	0.001464	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	291570	C=0.999077	T=0.000923
Allele Frequency Aggregator	European	Sub	243690	C=0.999984	T=0.000016
Allele Frequency Aggregator	Other	Sub	21856	C=0.99927	T=0.00073
Allele Frequency Aggregator	African	Sub	14914	C=0.98397	T=0.01603
Allele Frequency Aggregator	Asian	Sub	6898	C=1.0000	T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	2528	C=1.0000	T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1318	C=0.9924	T=0.0076
Allele Frequency Aggregator	South Asian	Sub	366	C=1.000	T=0.000
TopMed	Global	Study-wide	264690	C=0.994560	T=0.005440
gnomAD v4 - Genomes	Global	Study-wide	149168	C=0.995301	T=0.004699
gnomAD v4 - Genomes	European	Sub	78602	C=0.99999	T=0.00001
gnomAD v4 - Genomes	African	Sub	41538	C=0.98346	T=0.01654
gnomAD v4 - Genomes	American	Sub	15270	C=0.99915	T=0.00085
gnomAD v4 - Genomes	East Asian	Sub	5166	C=1.0000	T=0.0000
gnomAD v4 - Genomes	South Asian	Sub	4826	C=1.0000	T=0.0000
gnomAD v4 - Genomes	Ashkenazi Jewish	Sub	3472	C=1.0000	T=0.0000
gnomAD v4 - Genomes	Middle Eastern	sub	294	C=1.000	T=0.000
ExAC	Global	Study-wide	121284	C=0.998483	T=0.001517
ExAC	Europe	Sub	73332	C=0.99999	T=0.00001
ExAC	Asian	Sub	25160	C=0.99996	T=0.00004
ExAC	American	Sub	11486	C=0.99896	T=0.00104
ExAC	African	Sub	10398	C=0.98365	T=0.01635
ExAC	Other	Sub	908	C=1.000	T=0.000
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.99408	T=0.00592
GO Exome Sequencing Project	European American	Sub	8600	C=1.0000	T=0.0000
GO Exome Sequencing Project	African American	Sub	4406	C=0.9825	T=0.0175
1000Genomes_30X	Global	Study-wide	6404	C=0.9941	T=0.0059
1000Genomes_30X	African	Sub	1786	C=0.9798	T=0.0202
1000Genomes_30X	Europe	Sub	1266	C=1.0000	T=0.0000
1000Genomes_30X	South Asian	Sub	1202	C=1.0000	T=0.0000
1000Genomes_30X	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30X	American	Sub	980	C=0.998	T=0.002
1000Genomes	Global	Study-wide	5008	C=0.9944	T=0.0056
1000Genomes	African	Sub	1322	C=0.9803	T=0.0197
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=1.0000	T=0.0000
1000Genomes	South Asian	Sub	978	C=1.000	T=0.000
1000Genomes	American	Sub	694	C=0.997	T=0.003
HapMap	Global	Study-wide	890	C=0.980	T=0.020
HapMap	African	Sub	692	C=0.977	T=0.023
HapMap	American	Sub	198	C=0.990	T=0.010
PharmGKB Aggregated	Global	Study-wide	356	C=0.994	T=0.006
PharmGKB Aggregated	PA150055727	Sub	356	C=0.994	T=0.006
SGDP_PRJ	Global	Study-wide	6	C=0.5	T=0.5

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.94849995C>A
GRCh38.p14 chr 10	NC_000010.11:g.94849995C>G
GRCh38.p14 chr 10	NC_000010.11:g.94849995C>T
GRCh37.p13 chr 10	NC_000010.10:g.96609752C>A
GRCh37.p13 chr 10	NC_000010.10:g.96609752C>G
GRCh37.p13 chr 10	NC_000010.10:g.96609752C>T
CYP2C19 RefSeqGene (LRG_584)	NG_008384.3:g.92315C>A
CYP2C19 RefSeqGene (LRG_584)	NG_008384.3:g.92315C>G
CYP2C19 RefSeqGene (LRG_584)	NG_008384.3:g.92315C>T

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.1228C>A	R [CGT] > S [AGT]	Coding Sequence Variant
cytochrome P450 2C19	NP_000760.1:p.Arg410Ser	R (Arg) > S (Ser)	Missense Variant
CYP2C19 transcript	NM_000769.4:c.1228C>G	R [CGT] > G [GGT]	Coding Sequence Variant
cytochrome P450 2C19	NP_000760.1:p.Arg410Gly	R (Arg) > G (Gly)	Missense Variant
CYP2C19 transcript	NM_000769.4:c.1228C>T	R [CGT] > C [TGT]	Coding Sequence Variant
cytochrome P450 2C19	NP_000760.1:p.Arg410Cys	R (Arg) > C (Cys)	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.

Allele: T (allele ID: 622294 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000782427.10	CYP2C19: normal function	Drug-Response
RCV000782468.10	Citalopram response	Drug-Response
RCV000782469.10	Escitalopram response	Drug-Response
RCV000782477.11	Citalopram response	Drug-Response
RCV000782478.11	Escitalopram response	Drug-Response
RCV000782479.10	Citalopram response	Drug-Response
RCV000782500.10	Citalopram response	Drug-Response
RCV000782501.10	Escitalopram response	Drug-Response
RCV000782502.10	Citalopram response	Drug-Response
RCV000782503.10	Escitalopram response	Drug-Response
RCV000782504.10	Citalopram response	Drug-Response
RCV000782521.10	Escitalopram response	Drug-Response
RCV000782536.10	Citalopram response	Drug-Response
RCV000782540.10	Citalopram response	Drug-Response
RCV000782541.10	Escitalopram response	Drug-Response
RCV000782545.10	Escitalopram response	Drug-Response
RCV000782560.10	Citalopram response	Drug-Response
RCV000782569.10	Citalopram response	Drug-Response
RCV000782570.10	Escitalopram response	Drug-Response
RCV000782585.10	Citalopram response	Drug-Response
RCV000782586.10	Escitalopram response	Drug-Response
RCV000782616.10	Citalopram response	Drug-Response
RCV000782617.10	Escitalopram response	Drug-Response
RCV000782791.10	Citalopram response	Drug-Response
RCV000782809.10	Citalopram response	Drug-Response
RCV000782810.10	Escitalopram response	Drug-Response
RCV000782811.10	Citalopram response	Drug-Response
RCV000782812.10	Escitalopram response	Drug-Response
RCV000782813.10	Citalopram response	Drug-Response
RCV000782814.10	Escitalopram response	Drug-Response
RCV000782815.10	Citalopram response	Drug-Response
RCV000782816.10	Escitalopram response	Drug-Response
RCV000782817.10	Citalopram response	Drug-Response
RCV000782818.10	Escitalopram response	Drug-Response
RCV000783052.11	Citalopram response	Drug-Response
RCV000783053.11	Escitalopram response	Drug-Response
RCV000783059.10	Sertraline response	Drug-Response
RCV000783063.11	Sertraline response	Drug-Response
RCV000783065.10	Sertraline response	Drug-Response
RCV000783085.10	Sertraline response	Drug-Response
RCV000783095.10	Sertraline response	Drug-Response
RCV000783099.10	Sertraline response	Drug-Response
RCV000783105.10	Sertraline response	Drug-Response
RCV000783109.10	Sertraline response	Drug-Response
RCV000783114.10	Sertraline response	Drug-Response
RCV000783115.10	Sertraline response	Drug-Response
RCV000783116.10	Sertraline response	Drug-Response
RCV000783117.10	Sertraline response	Drug-Response
RCV000783232.10	Sertraline response	Drug-Response
RCV000783233.10	Sertraline response	Drug-Response
RCV000783234.10	Sertraline response	Drug-Response
RCV000783235.10	Sertraline response	Drug-Response
RCV000783236.10	Sertraline response	Drug-Response
RCV000783237.10	Sertraline response	Drug-Response
RCV000783368.10	Voriconazole response	Drug-Response
RCV000783381.10	Voriconazole response	Drug-Response
RCV000783382.10	Voriconazole response	Drug-Response
RCV000783506.10	Voriconazole response	Drug-Response
RCV000783507.10	Voriconazole response	Drug-Response
RCV000783508.10	Voriconazole response	Drug-Response
RCV000783520.10	Voriconazole response	Drug-Response
RCV000783524.10	Voriconazole response	Drug-Response
RCV000783534.10	Voriconazole response	Drug-Response
RCV000783546.10	Voriconazole response	Drug-Response
RCV000783551.10	Voriconazole response	Drug-Response
RCV000783552.10	Voriconazole response	Drug-Response
RCV000783553.10	Voriconazole response	Drug-Response
RCV000783554.10	Voriconazole response	Drug-Response
RCV000783565.10	Voriconazole response	Drug-Response
RCV000783606.10	Voriconazole response	Drug-Response
RCV000783610.11	Voriconazole response	Drug-Response
RCV000783611.10	Voriconazole response	Drug-Response
RCV000783612.10	Voriconazole response	Drug-Response
RCV000783701.10	Citalopram response	Drug-Response
RCV000783702.10	Escitalopram response	Drug-Response
RCV000783703.10	Escitalopram response	Drug-Response
RCV000783704.10	Citalopram response	Drug-Response
RCV000783705.10	Escitalopram response	Drug-Response
RCV000783706.10	Citalopram response	Drug-Response
RCV000783707.10	Escitalopram response	Drug-Response
RCV000783728.10	Escitalopram response	Drug-Response
RCV000783741.10	Citalopram response	Drug-Response
RCV000783742.10	Escitalopram response	Drug-Response
RCV000783751.10	Citalopram response	Drug-Response
RCV000783755.9	Citalopram response	Drug-Response
RCV000783756.9	Escitalopram response	Drug-Response
RCV000783760.10	Escitalopram response	Drug-Response
RCV000783775.10	Citalopram response	Drug-Response
RCV000783779.10	Citalopram response	Drug-Response
RCV000783780.10	Escitalopram response	Drug-Response
RCV000783784.10	Escitalopram response	Drug-Response
RCV000783811.10	Citalopram response	Drug-Response
RCV000783812.10	Escitalopram response	Drug-Response
RCV000783813.10	Citalopram response	Drug-Response
RCV000783814.10	Escitalopram response	Drug-Response
RCV000783815.10	Citalopram response	Drug-Response
RCV000783816.10	Escitalopram response	Drug-Response
RCV000784017.10	Escitalopram response	Drug-Response
RCV000784041.10	Escitalopram response	Drug-Response
RCV000784042.10	Citalopram response	Drug-Response
RCV000784043.10	Escitalopram response	Drug-Response
RCV000784044.10	Citalopram response	Drug-Response
RCV000784045.10	Escitalopram response	Drug-Response
RCV000784046.10	Citalopram response	Drug-Response
RCV000784047.10	Escitalopram response	Drug-Response
RCV000784048.10	Citalopram response	Drug-Response
RCV000784291.10	Sertraline response	Drug-Response
RCV000784294.10	Sertraline response	Drug-Response
RCV000784295.10	Sertraline response	Drug-Response
RCV000784308.10	Sertraline response	Drug-Response
RCV000784309.10	Sertraline response	Drug-Response
RCV000784310.10	Sertraline response	Drug-Response
RCV000784313.10	Sertraline response	Drug-Response
RCV000784320.9	Sertraline response	Drug-Response
RCV000784326.10	Sertraline response	Drug-Response
RCV000784330.10	Sertraline response	Drug-Response
RCV000784367.10	Sertraline response	Drug-Response
RCV000784437.11	Sertraline response	Drug-Response
RCV000784455.10	Sertraline response	Drug-Response
RCV000784466.10	Sertraline response	Drug-Response
RCV000784467.10	Sertraline response	Drug-Response
RCV000784468.10	Sertraline response	Drug-Response
RCV000784613.10	Voriconazole response	Drug-Response
RCV000784614.10	Voriconazole response	Drug-Response
RCV000784615.10	Voriconazole response	Drug-Response
RCV000784616.10	Voriconazole response	Drug-Response
RCV000784617.10	Voriconazole response	Drug-Response
RCV000784618.10	Voriconazole response	Drug-Response
RCV000784619.10	Voriconazole response	Drug-Response
RCV000784750.10	Voriconazole response	Drug-Response
RCV000784757.9	Voriconazole response	Drug-Response
RCV000784761.10	Voriconazole response	Drug-Response
RCV000784767.10	Voriconazole response	Drug-Response
RCV000784771.10	Voriconazole response	Drug-Response
RCV000784828.10	Voriconazole response	Drug-Response
RCV000784830.10	Voriconazole response	Drug-Response
RCV000784870.11	Voriconazole response	Drug-Response

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	T
GRCh38.p14 chr 10	NC_000010.11:g.94849995=	NC_000010.11:g.94849995C>A	NC_000010.11:g.94849995C>G	NC_000010.11:g.94849995C>T
GRCh37.p13 chr 10	NC_000010.10:g.96609752=	NC_000010.10:g.96609752C>A	NC_000010.10:g.96609752C>G	NC_000010.10:g.96609752C>T
CYP2C19 RefSeqGene (LRG_584)	NG_008384.3:g.92315=	NG_008384.3:g.92315C>A	NG_008384.3:g.92315C>G	NG_008384.3:g.92315C>T
CYP2C19 transcript	NM_000769.4:c.1228=	NM_000769.4:c.1228C>A	NM_000769.4:c.1228C>G	NM_000769.4:c.1228C>T
CYP2C19 transcript	NM_000769.3:c.1228=	NM_000769.3:c.1228C>A	NM_000769.3:c.1228C>G	NM_000769.3:c.1228C>T
CYP2C19 transcript	NM_000769.2:c.1228=	NM_000769.2:c.1228C>A	NM_000769.2:c.1228C>G	NM_000769.2:c.1228C>T
CYP2C19 transcript	NM_000769.1:c.1228=	NM_000769.1:c.1228C>A	NM_000769.1:c.1228C>G	NM_000769.1:c.1228C>T
cytochrome P450 2C19	NP_000760.1:p.Arg410=	NP_000760.1:p.Arg410Ser	NP_000760.1:p.Arg410Gly	NP_000760.1:p.Arg410Cys

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#.

93 SubSNP, 13 Frequency, 137 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	EGP_SNPS	ss28531463	Dec 02, 2004 (124)
2	ILLUMINA	ss74869466	Dec 07, 2007 (129)
3	CCHMC-CAE-PGCORE	ss79314160	Dec 15, 2007 (130)
4	PHARMGKB_AB_DME	ss84155572	Dec 15, 2007 (130)
5	SNP500CANCER	ss105439382	Feb 06, 2009 (130)
6	KRIBB_YJKIM	ss119897521	Dec 01, 2009 (131)
7	SEATTLESEQ	ss159721124	Dec 01, 2009 (131)
8	ILLUMINA	ss160461301	Dec 01, 2009 (131)
9	ILLUMINA	ss172916515	Jul 04, 2010 (132)
10	1000GENOMES	ss211025623	Jul 14, 2010 (132)
11	ILLUMINA	ss244284695	Jul 04, 2010 (132)
12	1000GENOMES	ss336318022	May 09, 2011 (134)
13	NHLBI-ESP	ss342304138	May 09, 2011 (134)
14	ILLUMINA	ss480295977	May 04, 2012 (137)
15	ILLUMINA	ss480306988	May 04, 2012 (137)
16	ILLUMINA	ss481061044	Sep 08, 2015 (146)
17	ILLUMINA	ss484945790	May 04, 2012 (137)
18	1000GENOMES	ss491001652	May 04, 2012 (137)
19	EXOME_CHIP	ss491438620	May 04, 2012 (137)
20	ILLUMINA	ss536990290	Sep 08, 2015 (146)
21	ILLUMINA	ss778467315	Sep 08, 2015 (146)
22	ILLUMINA	ss780889003	Sep 08, 2015 (146)
23	ILLUMINA	ss782919206	Sep 08, 2015 (146)
24	ILLUMINA	ss783575249	Sep 08, 2015 (146)
25	ILLUMINA	ss783882282	Sep 08, 2015 (146)
26	ILLUMINA	ss832174298	Sep 08, 2015 (146)
27	ILLUMINA	ss833923064	Sep 08, 2015 (146)
28	JMKIDD_LAB	ss1067514954	Aug 21, 2014 (142)
29	JMKIDD_LAB	ss1077215920	Aug 21, 2014 (142)
30	1000GENOMES	ss1338626533	Aug 21, 2014 (142)
31	EVA_EXAC	ss1690012189	Apr 01, 2015 (144)
32	ILLUMINA	ss1751988314	Sep 08, 2015 (146)
33	ILLUMINA	ss1751988315	Sep 08, 2015 (146)
34	ILLUMINA	ss1917849825	Feb 12, 2016 (147)
35	ILLUMINA	ss1946289793	Feb 12, 2016 (147)
36	ILLUMINA	ss1946289794	Feb 12, 2016 (147)
37	ILLUMINA	ss1959284973	Feb 12, 2016 (147)
38	ILLUMINA	ss1959284974	Feb 12, 2016 (147)
39	HUMAN_LONGEVITY	ss2177153769	Dec 20, 2016 (150)
40	ILLUMINA	ss2632748425	Nov 08, 2017 (151)
41	ILLUMINA	ss2632748426	Nov 08, 2017 (151)
42	ILLUMINA	ss2710717554	Nov 08, 2017 (151)
43	GNOMAD	ss2738421154	Nov 08, 2017 (151)
44	GNOMAD	ss2748441594	Nov 08, 2017 (151)
45	GNOMAD	ss2892136519	Nov 08, 2017 (151)
46	AFFY	ss2984919996	Nov 08, 2017 (151)
47	AFFY	ss2985568274	Nov 08, 2017 (151)
48	ILLUMINA	ss3021264899	Nov 08, 2017 (151)
49	ILLUMINA	ss3625584971	Oct 12, 2018 (152)
50	ILLUMINA	ss3626509968	Oct 12, 2018 (152)
51	ILLUMINA	ss3626509969	Oct 12, 2018 (152)
52	ILLUMINA	ss3630771667	Oct 12, 2018 (152)
53	ILLUMINA	ss3632960340	Oct 12, 2018 (152)
54	ILLUMINA	ss3633657987	Oct 12, 2018 (152)
55	ILLUMINA	ss3634417852	Oct 12, 2018 (152)
56	ILLUMINA	ss3634417853	Oct 12, 2018 (152)
57	ILLUMINA	ss3636102114	Oct 12, 2018 (152)
58	ILLUMINA	ss3637100970	Oct 12, 2018 (152)
59	ILLUMINA	ss3637867267	Oct 12, 2018 (152)
60	ILLUMINA	ss3640125193	Oct 12, 2018 (152)
61	ILLUMINA	ss3640125194	Oct 12, 2018 (152)
62	ILLUMINA	ss3642869338	Oct 12, 2018 (152)
63	ILLUMINA	ss3644542540	Oct 12, 2018 (152)
64	ILLUMINA	ss3651623325	Oct 12, 2018 (152)
65	ILLUMINA	ss3653690731	Oct 12, 2018 (152)
66	ILLUMINA	ss3725179502	Jul 13, 2019 (153)
67	ILLUMINA	ss3744369916	Jul 13, 2019 (153)
68	ILLUMINA	ss3744718823	Jul 13, 2019 (153)
69	ILLUMINA	ss3772219179	Jul 13, 2019 (153)
70	KHV_HUMAN_GENOMES	ss3813835543	Jul 13, 2019 (153)
71	EVA	ss3824540998	Apr 26, 2020 (154)
72	SGDP_PRJ	ss3874829165	Apr 26, 2020 (154)
73	FSA-LAB	ss3983983388	Apr 26, 2021 (155)
74	EVA	ss3986493476	Apr 26, 2021 (155)
75	TOPMED	ss4862652344	Apr 26, 2021 (155)
76	EVA	ss6253829536	Nov 01, 2024 (157)
77	EVA	ss6307411687	Nov 01, 2024 (157)
78	GNOMAD	ss6440425147	Nov 01, 2024 (157)
79	GNOMAD	ss6440425148	Nov 01, 2024 (157)
80	GNOMAD	ss6440425149	Nov 01, 2024 (157)
81	GNOMAD	ss6859899643	Nov 01, 2024 (157)
82	1000G_HIGH_COVERAGE	ss8285090602	Nov 01, 2024 (157)
83	EVA	ss8395327251	Nov 01, 2024 (157)
84	HUGCELL_USP	ss8480549736	Nov 01, 2024 (157)
85	EVA	ss8512473901	Nov 01, 2024 (157)
86	1000G_HIGH_COVERAGE	ss8579568955	Nov 01, 2024 (157)
87	SANFORD_IMAGENETICS	ss8649887532	Nov 01, 2024 (157)
88	EVA	ss8847605645	Nov 01, 2024 (157)
89	EVA	ss8880088380	Nov 01, 2024 (157)
90	EVA	ss8941173824	Nov 01, 2024 (157)
91	EVA	ss8979335341	Nov 01, 2024 (157)
92	EVA	ss8981454541	Nov 01, 2024 (157)
93	EVA	ss8982151838	Nov 01, 2024 (157)
94	1000Genomes	NC_000010.10 - 96609752	Oct 12, 2018 (152)
95	1000Genomes_30X	NC_000010.11 - 94849995	Nov 01, 2024 (157)
96	ExAC	NC_000010.10 - 96609752	Oct 12, 2018 (152)
97	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 35746986 (NC_000010.11:94849994:C:A 2/1401126) Row 35746987 (NC_000010.11:94849994:C:G 3/1401126) Row 35746988 (NC_000010.11:94849994:C:T 645/1401126)	-	Nov 01, 2024 (157)
98	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 35746986 (NC_000010.11:94849994:C:A 2/1401126) Row 35746987 (NC_000010.11:94849994:C:G 3/1401126) Row 35746988 (NC_000010.11:94849994:C:T 645/1401126)	-	Nov 01, 2024 (157)
99	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 35746986 (NC_000010.11:94849994:C:A 2/1401126) Row 35746987 (NC_000010.11:94849994:C:G 3/1401126) Row 35746988 (NC_000010.11:94849994:C:T 645/1401126)	-	Nov 01, 2024 (157)
100	gnomAD v4 - Genomes	NC_000010.11 - 94849995	Nov 01, 2024 (157)
101	GO Exome Sequencing Project	NC_000010.10 - 96609752	Oct 12, 2018 (152)
102	HapMap	NC_000010.11 - 94849995	Apr 26, 2020 (154)
103	PharmGKB Aggregated	NC_000010.11 - 94849995	Apr 26, 2020 (154)
104	SGDP_PRJ	NC_000010.10 - 96609752	Apr 26, 2020 (154)
105	TopMed	NC_000010.11 - 94849995	Apr 26, 2021 (155)
106	ALFA	NC_000010.11 - 94849995	Nov 01, 2024 (157)
107	ClinVar	RCV000782427.10	Nov 01, 2024 (157)
108	ClinVar	RCV000782468.10	Nov 01, 2024 (157)
109	ClinVar	RCV000782469.10	Nov 01, 2024 (157)
110	ClinVar	RCV000782477.11	Nov 01, 2024 (157)
111	ClinVar	RCV000782478.11	Nov 01, 2024 (157)
112	ClinVar	RCV000782479.10	Nov 01, 2024 (157)
113	ClinVar	RCV000782500.10	Nov 01, 2024 (157)
114	ClinVar	RCV000782501.10	Nov 01, 2024 (157)
115	ClinVar	RCV000782502.10	Nov 01, 2024 (157)
116	ClinVar	RCV000782503.10	Nov 01, 2024 (157)
117	ClinVar	RCV000782504.10	Nov 01, 2024 (157)
118	ClinVar	RCV000782521.10	Nov 01, 2024 (157)
119	ClinVar	RCV000782536.10	Nov 01, 2024 (157)
120	ClinVar	RCV000782540.10	Nov 01, 2024 (157)
121	ClinVar	RCV000782541.10	Nov 01, 2024 (157)
122	ClinVar	RCV000782545.10	Nov 01, 2024 (157)
123	ClinVar	RCV000782560.10	Nov 01, 2024 (157)
124	ClinVar	RCV000782569.10	Nov 01, 2024 (157)
125	ClinVar	RCV000782570.10	Nov 01, 2024 (157)
126	ClinVar	RCV000782585.10	Nov 01, 2024 (157)
127	ClinVar	RCV000782586.10	Nov 01, 2024 (157)
128	ClinVar	RCV000782616.10	Nov 01, 2024 (157)
129	ClinVar	RCV000782617.10	Nov 01, 2024 (157)
130	ClinVar	RCV000782791.10	Nov 01, 2024 (157)
131	ClinVar	RCV000782809.10	Nov 01, 2024 (157)
132	ClinVar	RCV000782810.10	Nov 01, 2024 (157)
133	ClinVar	RCV000782811.10	Nov 01, 2024 (157)
134	ClinVar	RCV000782812.10	Nov 01, 2024 (157)
135	ClinVar	RCV000782813.10	Nov 01, 2024 (157)
136	ClinVar	RCV000782814.10	Nov 01, 2024 (157)
137	ClinVar	RCV000782815.10	Nov 01, 2024 (157)
138	ClinVar	RCV000782816.10	Nov 01, 2024 (157)
139	ClinVar	RCV000782817.10	Nov 01, 2024 (157)
140	ClinVar	RCV000782818.10	Nov 01, 2024 (157)
141	ClinVar	RCV000783052.11	Nov 01, 2024 (157)
142	ClinVar	RCV000783053.11	Nov 01, 2024 (157)
143	ClinVar	RCV000783059.10	Nov 01, 2024 (157)
144	ClinVar	RCV000783063.11	Nov 01, 2024 (157)
145	ClinVar	RCV000783065.10	Nov 01, 2024 (157)
146	ClinVar	RCV000783085.10	Nov 01, 2024 (157)
147	ClinVar	RCV000783095.10	Nov 01, 2024 (157)
148	ClinVar	RCV000783099.10	Nov 01, 2024 (157)
149	ClinVar	RCV000783105.10	Nov 01, 2024 (157)
150	ClinVar	RCV000783109.10	Nov 01, 2024 (157)
151	ClinVar	RCV000783114.10	Nov 01, 2024 (157)
152	ClinVar	RCV000783115.10	Nov 01, 2024 (157)
153	ClinVar	RCV000783116.10	Nov 01, 2024 (157)
154	ClinVar	RCV000783117.10	Nov 01, 2024 (157)
155	ClinVar	RCV000783232.10	Nov 01, 2024 (157)
156	ClinVar	RCV000783233.10	Nov 01, 2024 (157)
157	ClinVar	RCV000783234.10	Nov 01, 2024 (157)
158	ClinVar	RCV000783235.10	Nov 01, 2024 (157)
159	ClinVar	RCV000783236.10	Nov 01, 2024 (157)
160	ClinVar	RCV000783237.10	Nov 01, 2024 (157)
161	ClinVar	RCV000783368.10	Nov 01, 2024 (157)
162	ClinVar	RCV000783381.10	Nov 01, 2024 (157)
163	ClinVar	RCV000783382.10	Nov 01, 2024 (157)
164	ClinVar	RCV000783506.10	Nov 01, 2024 (157)
165	ClinVar	RCV000783507.10	Nov 01, 2024 (157)
166	ClinVar	RCV000783508.10	Nov 01, 2024 (157)
167	ClinVar	RCV000783520.10	Nov 01, 2024 (157)
168	ClinVar	RCV000783524.10	Nov 01, 2024 (157)
169	ClinVar	RCV000783534.10	Nov 01, 2024 (157)
170	ClinVar	RCV000783546.10	Nov 01, 2024 (157)
171	ClinVar	RCV000783551.10	Nov 01, 2024 (157)
172	ClinVar	RCV000783552.10	Nov 01, 2024 (157)
173	ClinVar	RCV000783553.10	Nov 01, 2024 (157)
174	ClinVar	RCV000783554.10	Nov 01, 2024 (157)
175	ClinVar	RCV000783565.10	Nov 01, 2024 (157)
176	ClinVar	RCV000783606.10	Nov 01, 2024 (157)
177	ClinVar	RCV000783610.11	Nov 01, 2024 (157)
178	ClinVar	RCV000783611.10	Nov 01, 2024 (157)
179	ClinVar	RCV000783612.10	Nov 01, 2024 (157)
180	ClinVar	RCV000783701.10	Nov 01, 2024 (157)
181	ClinVar	RCV000783702.10	Nov 01, 2024 (157)
182	ClinVar	RCV000783703.10	Nov 01, 2024 (157)
183	ClinVar	RCV000783704.10	Nov 01, 2024 (157)
184	ClinVar	RCV000783705.10	Nov 01, 2024 (157)
185	ClinVar	RCV000783706.10	Nov 01, 2024 (157)
186	ClinVar	RCV000783707.10	Nov 01, 2024 (157)
187	ClinVar	RCV000783728.10	Nov 01, 2024 (157)
188	ClinVar	RCV000783741.10	Nov 01, 2024 (157)
189	ClinVar	RCV000783742.10	Nov 01, 2024 (157)
190	ClinVar	RCV000783751.10	Nov 01, 2024 (157)
191	ClinVar	RCV000783755.9	Nov 01, 2024 (157)
192	ClinVar	RCV000783756.9	Nov 01, 2024 (157)
193	ClinVar	RCV000783760.10	Nov 01, 2024 (157)
194	ClinVar	RCV000783775.10	Nov 01, 2024 (157)
195	ClinVar	RCV000783779.10	Nov 01, 2024 (157)
196	ClinVar	RCV000783780.10	Nov 01, 2024 (157)
197	ClinVar	RCV000783784.10	Nov 01, 2024 (157)
198	ClinVar	RCV000783811.10	Nov 01, 2024 (157)
199	ClinVar	RCV000783812.10	Nov 01, 2024 (157)
200	ClinVar	RCV000783813.10	Nov 01, 2024 (157)
201	ClinVar	RCV000783814.10	Nov 01, 2024 (157)
202	ClinVar	RCV000783815.10	Nov 01, 2024 (157)
203	ClinVar	RCV000783816.10	Nov 01, 2024 (157)
204	ClinVar	RCV000784017.10	Nov 01, 2024 (157)
205	ClinVar	RCV000784041.10	Nov 01, 2024 (157)
206	ClinVar	RCV000784042.10	Nov 01, 2024 (157)
207	ClinVar	RCV000784043.10	Nov 01, 2024 (157)
208	ClinVar	RCV000784044.10	Nov 01, 2024 (157)
209	ClinVar	RCV000784045.10	Nov 01, 2024 (157)
210	ClinVar	RCV000784046.10	Nov 01, 2024 (157)
211	ClinVar	RCV000784047.10	Nov 01, 2024 (157)
212	ClinVar	RCV000784048.10	Nov 01, 2024 (157)
213	ClinVar	RCV000784291.10	Nov 01, 2024 (157)
214	ClinVar	RCV000784294.10	Nov 01, 2024 (157)
215	ClinVar	RCV000784295.10	Nov 01, 2024 (157)
216	ClinVar	RCV000784308.10	Nov 01, 2024 (157)
217	ClinVar	RCV000784309.10	Nov 01, 2024 (157)
218	ClinVar	RCV000784310.10	Nov 01, 2024 (157)
219	ClinVar	RCV000784313.10	Nov 01, 2024 (157)
220	ClinVar	RCV000784320.9	Nov 01, 2024 (157)
221	ClinVar	RCV000784326.10	Nov 01, 2024 (157)
222	ClinVar	RCV000784330.10	Nov 01, 2024 (157)
223	ClinVar	RCV000784367.10	Nov 01, 2024 (157)
224	ClinVar	RCV000784437.11	Nov 01, 2024 (157)
225	ClinVar	RCV000784455.10	Nov 01, 2024 (157)
226	ClinVar	RCV000784466.10	Nov 01, 2024 (157)
227	ClinVar	RCV000784467.10	Nov 01, 2024 (157)
228	ClinVar	RCV000784468.10	Nov 01, 2024 (157)
229	ClinVar	RCV000784613.10	Nov 01, 2024 (157)
230	ClinVar	RCV000784614.10	Nov 01, 2024 (157)
231	ClinVar	RCV000784615.10	Nov 01, 2024 (157)
232	ClinVar	RCV000784616.10	Nov 01, 2024 (157)
233	ClinVar	RCV000784617.10	Nov 01, 2024 (157)
234	ClinVar	RCV000784618.10	Nov 01, 2024 (157)
235	ClinVar	RCV000784619.10	Nov 01, 2024 (157)
236	ClinVar	RCV000784750.10	Nov 01, 2024 (157)
237	ClinVar	RCV000784757.9	Nov 01, 2024 (157)
238	ClinVar	RCV000784761.10	Nov 01, 2024 (157)
239	ClinVar	RCV000784767.10	Nov 01, 2024 (157)
240	ClinVar	RCV000784771.10	Nov 01, 2024 (157)
241	ClinVar	RCV000784828.10	Nov 01, 2024 (157)
242	ClinVar	RCV000784830.10	Nov 01, 2024 (157)
243	ClinVar	RCV000784870.11	Nov 01, 2024 (157)

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)
rs60806690	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss6440425147	NC_000010.11:94849994:C:A	NC_000010.11:94849994:C:A
ss2738421154	NC_000010.10:96609751:C:G	NC_000010.11:94849994:C:G	(self)
ss6440425148	NC_000010.11:94849994:C:G	NC_000010.11:94849994:C:G
ss211025623, ss480295977, ss3642869338	NC_000010.9:96599741:C:T	NC_000010.11:94849994:C:T	(self)
51058035, 241837, 998680, 26846145, ss336318022, ss342304138, ss480306988, ss481061044, ss484945790, ss491001652, ss491438620, ss536990290, ss778467315, ss780889003, ss782919206, ss783575249, ss783882282, ss832174298, ss833923064, ss1067514954, ss1077215920, ss1338626533, ss1690012189, ss1751988314, ss1751988315, ss1917849825, ss1946289793, ss1946289794, ss1959284973, ss1959284974, ss2632748425, ss2632748426, ss2710717554, ss2738421154, ss2748441594, ss2892136519, ss2984919996, ss2985568274, ss3021264899, ss3625584971, ss3626509968, ss3626509969, ss3630771667, ss3632960340, ss3633657987, ss3634417852, ss3634417853, ss3636102114, ss3637100970, ss3637867267, ss3640125193, ss3640125194, ss3644542540, ss3651623325, ss3653690731, ss3744369916, ss3744718823, ss3772219179, ss3824540998, ss3874829165, ss3983983388, ss3986493476, ss6253829536, ss6307411687, ss8395327251, ss8512473901, ss8649887532, ss8847605645, ss8941173824, ss8979335341, ss8981454541, ss8982151838	NC_000010.10:96609751:C:T	NC_000010.11:94849994:C:T	(self)
RCV000782427.10, RCV000782468.10, RCV000782469.10, RCV000782477.11, RCV000782478.11, RCV000782479.10, RCV000782500.10, RCV000782501.10, RCV000782502.10, RCV000782503.10, RCV000782504.10, RCV000782521.10, RCV000782536.10, RCV000782540.10, RCV000782541.10, RCV000782545.10, RCV000782560.10, RCV000782569.10, RCV000782570.10, RCV000782585.10, RCV000782586.10, RCV000782616.10, RCV000782617.10, RCV000782791.10, RCV000782809.10, RCV000782810.10, RCV000782811.10, RCV000782812.10, RCV000782813.10, RCV000782814.10, RCV000782815.10, RCV000782816.10, RCV000782817.10, RCV000782818.10, RCV000783052.11, RCV000783053.11, RCV000783059.10, RCV000783063.11, RCV000783065.10, RCV000783085.10, RCV000783095.10, RCV000783099.10, RCV000783105.10, RCV000783109.10, RCV000783114.10, RCV000783115.10, RCV000783116.10, RCV000783117.10, RCV000783232.10, RCV000783233.10, RCV000783234.10, RCV000783235.10, RCV000783236.10, RCV000783237.10, RCV000783368.10, RCV000783381.10, RCV000783382.10, RCV000783506.10, RCV000783507.10, RCV000783508.10, RCV000783520.10, RCV000783524.10, RCV000783534.10, RCV000783546.10, RCV000783551.10, RCV000783552.10, RCV000783553.10, RCV000783554.10, RCV000783565.10, RCV000783606.10, RCV000783610.11, RCV000783611.10, RCV000783612.10, RCV000783701.10, RCV000783702.10, RCV000783703.10, RCV000783704.10, RCV000783705.10, RCV000783706.10, RCV000783707.10, RCV000783728.10, RCV000783741.10, RCV000783742.10, RCV000783751.10, RCV000783755.9, RCV000783756.9, RCV000783760.10, RCV000783775.10, RCV000783779.10, RCV000783780.10, RCV000783784.10, RCV000783811.10, RCV000783812.10, RCV000783813.10, RCV000783814.10, RCV000783815.10, RCV000783816.10, RCV000784017.10, RCV000784041.10, RCV000784042.10, RCV000784043.10, RCV000784044.10, RCV000784045.10, RCV000784046.10, RCV000784047.10, RCV000784048.10, RCV000784291.10, RCV000784294.10, RCV000784295.10, RCV000784308.10, RCV000784309.10, RCV000784310.10, RCV000784313.10, RCV000784320.9, RCV000784326.10, RCV000784330.10, RCV000784367.10, RCV000784437.11, RCV000784455.10, RCV000784466.10, RCV000784467.10, RCV000784468.10, RCV000784613.10, RCV000784614.10, RCV000784615.10, RCV000784616.10, RCV000784617.10, RCV000784618.10, RCV000784619.10, RCV000784750.10, RCV000784757.9, RCV000784761.10, RCV000784767.10, RCV000784771.10, RCV000784828.10, RCV000784830.10, RCV000784870.11, 67094890, 387035396, 468230, 1141, 78197999, 447815287, ss2177153769, ss3725179502, ss3813835543, ss4862652344, ss6440425149, ss6859899643, ss8285090602, ss8480549736, ss8579568955, ss8880088380	NC_000010.11:94849994:C:T	NC_000010.11:94849994:C:T	(self)
ss28531463, ss74869466, ss79314160, ss84155572, ss105439382, ss119897521, ss159721124, ss160461301, ss172916515, ss244284695	NT_030059.13:47414215:C:T	NC_000010.11:94849994:C:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

6 citations for rs17879685

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
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
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
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

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs17879685