Name: rs10264272
Published: September 21, 2022
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.

rs10264272

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:99665212 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.005963 (1759/294968, ALFA)
T=0.042476 (11243/264690, TOPMED)
T=0.010039 (2524/251422, GnomAD_exome) (+ 14 more)
T=0.039940 (5599/140186, GnomAD)
T=0.011982 (1453/121268, ExAC)
T=0.06201 (4880/78700, PAGE_STUDY)
T=0.04129 (537/13006, GO-ESP)
T=0.0465 (298/6404, 1000G_30x)
T=0.0445 (223/5008, 1000G)
T=0.0010 (4/3854, ALSPAC)
T=0.0000 (0/3708, TWINSUK)
T=0.0106 (35/3292, PRJNA289433)
T=0.0969 (139/1434, HapMap)
T=0.066 (54/816, PharmGKB)
T=0.006 (3/534, MGP)
T=0.032 (7/216, Qatari)
C=0.38 (12/32, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CYP3A5 : Synonymous Variant
ZSCAN25 : Intron Variant
Publications: 39 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	311328	C=0.992516	T=0.007484	0.985745	0.000713	0.013542	32
European	Sub	268326	C=0.998904	T=0.001096	0.997816	0.000007	0.002176	3
African	Sub	15664	C=0.88579	T=0.11421	0.784985	0.013407	0.201609	0
African Others	Sub	572	C=0.858	T=0.142	0.734266	0.017483	0.248252	0
African American	Sub	15092	C=0.88683	T=0.11317	0.786907	0.013252	0.199841	0
Asian	Sub	3824	C=1.0000	T=0.0000	1.0	0.0	0.0	N/A
East Asian	Sub	3112	C=1.0000	T=0.0000	1.0	0.0	0.0	N/A
Other Asian	Sub	712	C=1.000	T=0.000	1.0	0.0	0.0	N/A
Latin American 1	Sub	1274	C=0.9537	T=0.0463	0.908948	0.00157	0.089482	0
Latin American 2	Sub	1846	C=0.9908	T=0.0092	0.981582	0.0	0.018418	0
South Asian	Sub	5218	C=1.0000	T=0.0000	1.0	0.0	0.0	N/A
Other	Sub	15176	C=0.98873	T=0.01127	0.977992	0.000527	0.021481	6

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	294968	C=0.994037	T=0.005963
Allele Frequency Aggregator	European	Sub	258238	C=0.998900	T=0.001100
Allele Frequency Aggregator	Other	Sub	13742	C=0.98901	T=0.01099
Allele Frequency Aggregator	African	Sub	10826	C=0.88472	T=0.11528
Allele Frequency Aggregator	South Asian	Sub	5218	C=1.0000	T=0.0000
Allele Frequency Aggregator	Asian	Sub	3824	C=1.0000	T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	1846	C=0.9908	T=0.0092
Allele Frequency Aggregator	Latin American 1	Sub	1274	C=0.9537	T=0.0463
TopMed	Global	Study-wide	264690	C=0.957524	T=0.042476
gnomAD - Exomes	Global	Study-wide	251422	C=0.989961	T=0.010039
gnomAD - Exomes	European	Sub	135378	C=0.999269	T=0.000731
gnomAD - Exomes	Asian	Sub	49008	C=0.99982	T=0.00018
gnomAD - Exomes	American	Sub	34566	C=0.99222	T=0.00778
gnomAD - Exomes	African	Sub	16254	C=0.87068	T=0.12932
gnomAD - Exomes	Ashkenazi Jewish	Sub	10080	C=1.00000	T=0.00000
gnomAD - Exomes	Other	Sub	6136	C=0.9927	T=0.0073
gnomAD - Genomes	Global	Study-wide	140186	C=0.960060	T=0.039940
gnomAD - Genomes	European	Sub	75924	C=0.99924	T=0.00076
gnomAD - Genomes	African	Sub	42006	C=0.87711	T=0.12289
gnomAD - Genomes	American	Sub	13652	C=0.97846	T=0.02154
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=1.0000	T=0.0000
gnomAD - Genomes	East Asian	Sub	3130	C=1.0000	T=0.0000
gnomAD - Genomes	Other	Sub	2152	C=0.9605	T=0.0395
ExAC	Global	Study-wide	121268	C=0.988018	T=0.011982
ExAC	Europe	Sub	73276	C=0.99925	T=0.00075
ExAC	Asian	Sub	25154	C=0.99984	T=0.00016
ExAC	American	Sub	11528	C=0.99202	T=0.00798
ExAC	African	Sub	10404	C=0.87572	T=0.12428
ExAC	Other	Sub	906	C=0.990	T=0.010
The PAGE Study	Global	Study-wide	78700	C=0.93799	T=0.06201
The PAGE Study	AfricanAmerican	Sub	32516	C=0.88092	T=0.11908
The PAGE Study	Mexican	Sub	10808	C=0.99093	T=0.00907
The PAGE Study	Asian	Sub	8318	C=0.9999	T=0.0001
The PAGE Study	PuertoRican	Sub	7918	C=0.9442	T=0.0558
The PAGE Study	NativeHawaiian	Sub	4534	C=0.9967	T=0.0033
The PAGE Study	Cuban	Sub	4230	C=0.9792	T=0.0208
The PAGE Study	Dominican	Sub	3828	C=0.9365	T=0.0635
The PAGE Study	CentralAmerican	Sub	2450	C=0.9690	T=0.0310
The PAGE Study	SouthAmerican	Sub	1982	C=0.9894	T=0.0106
The PAGE Study	NativeAmerican	Sub	1260	C=0.9817	T=0.0183
The PAGE Study	SouthAsian	Sub	856	C=0.999	T=0.001
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.95871	T=0.04129
GO Exome Sequencing Project	European American	Sub	8600	C=0.9992	T=0.0008
GO Exome Sequencing Project	African American	Sub	4406	C=0.8797	T=0.1203
1000Genomes_30x	Global	Study-wide	6404	C=0.9535	T=0.0465
1000Genomes_30x	African	Sub	1786	C=0.8488	T=0.1512
1000Genomes_30x	Europe	Sub	1266	C=0.9961	T=0.0039
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=0.977	T=0.023
1000Genomes	Global	Study-wide	5008	C=0.9555	T=0.0445
1000Genomes	African	Sub	1322	C=0.8457	T=0.1543
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9970	T=0.0030
1000Genomes	South Asian	Sub	978	C=1.000	T=0.000
1000Genomes	American	Sub	694	C=0.977	T=0.023
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9990	T=0.0010
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=1.0000	T=0.0000
MxGDAR/Encodat-PGx	Global	Study-wide	3292	C=0.9894	T=0.0106
MxGDAR/Encodat-PGx	MxGDAR	Sub	3292	C=0.9894	T=0.0106
HapMap	Global	Study-wide	1434	C=0.9031	T=0.0969
HapMap	African	Sub	692	C=0.819	T=0.181
HapMap	American	Sub	314	C=0.962	T=0.038
HapMap	Asian	Sub	252	C=0.996	T=0.004
HapMap	Europe	Sub	176	C=0.994	T=0.006
PharmGKB Aggregated	Global	Study-wide	816	C=0.934	T=0.066
PharmGKB Aggregated	PA149794671	Sub	354	C=0.977	T=0.023
PharmGKB Aggregated	PA164944472	Sub	268	C=0.854	T=0.146
PharmGKB Aggregated	PA142202220	Sub	194	C=0.964	T=0.036
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.994	T=0.006
Qatari	Global	Study-wide	216	C=0.968	T=0.032
SGDP_PRJ	Global	Study-wide	32	C=0.38	T=0.62

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 7	NC_000007.14:g.99665212C>T
GRCh37.p13 chr 7	NC_000007.13:g.99262835C>T
CYP3A5 RefSeqGene (LRG_1431)	NG_007938.2:g.19787G>A

Gene: ZSCAN25, zinc finger and SCAN domain containing 25 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZSCAN25 transcript variant 7	NM_001350984.2:c.806-3883… NM_001350984.2:c.806-3883C>T	N/A	Intron Variant
ZSCAN25 transcript variant 8	NM_001350985.2:c.806-3883… NM_001350985.2:c.806-3883C>T	N/A	Intron Variant
ZSCAN25 transcript variant 2	NM_001350979.2:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant 3	NM_001350980.2:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant 4	NM_001350981.2:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant 5	NM_001350982.2:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant 6	NM_001350983.2:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant 9	NM_001350986.2:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant 1	NM_145115.3:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant X8	XM_011515909.3:c.806-3883… XM_011515909.3:c.806-3883C>T	N/A	Intron Variant
ZSCAN25 transcript variant X9	XM_047420016.1:c.806-3883… XM_047420016.1:c.806-3883C>T	N/A	Intron Variant
ZSCAN25 transcript variant X10	XM_047420017.1:c.806-3883… XM_047420017.1:c.806-3883C>T	N/A	Intron Variant
ZSCAN25 transcript variant X13	XM_047420018.1:c.806-3883… XM_047420018.1:c.806-3883C>T	N/A	Intron Variant
ZSCAN25 transcript variant X14	XM_047420019.1:c.806-3883… XM_047420019.1:c.806-3883C>T	N/A	Intron Variant
ZSCAN25 transcript variant X1	XM_011515905.3:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant X2	XM_011515907.3:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant X11	XM_011515910.3:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant X5	XM_047420011.1:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant X3	XM_047420012.1:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant X4	XM_047420013.1:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant X6	XM_047420014.1:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant X7	XM_047420015.1:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant X15	XM_047420020.1:c.	N/A	Genic Downstream Transcript Variant
ZSCAN25 transcript variant X16	XR_007059988.1:n.	N/A	Intron Variant
ZSCAN25 transcript variant X17	XR_007059989.1:n.	N/A	Intron Variant
ZSCAN25 transcript variant X18	XR_007059990.1:n.	N/A	Intron Variant
ZSCAN25 transcript variant X12	XR_927402.3:n.	N/A	Intron Variant

Gene: CYP3A5, cytochrome P450 family 3 subfamily A member 5 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CYP3A5 transcript variant 2	NM_001190484.3:c.	N/A	Genic Downstream Transcript Variant
CYP3A5 transcript variant 1	NM_000777.5:c.624G>A	K [AAG] > K [AAA]	Coding Sequence Variant
cytochrome P450 3A5 isoform 1	NP_000768.1:p.Lys208=	K (Lys) > K (Lys)	Synonymous Variant
CYP3A5 transcript variant 4	NM_001291829.2:c.285G>A	K [AAG] > K [AAA]	Coding Sequence Variant
cytochrome P450 3A5 isoform 3	NP_001278758.1:p.Lys95=	K (Lys) > K (Lys)	Synonymous Variant
CYP3A5 transcript variant 5	NM_001291830.2:c.594G>A	K [AAG] > K [AAA]	Coding Sequence Variant
cytochrome P450 3A5 isoform 4 precursor	NP_001278759.1:p.Lys198=	K (Lys) > K (Lys)	Synonymous Variant
CYP3A5 transcript variant 3	NR_033807.3:n.1243G>A	N/A	Non Coding Transcript 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.

Not Reported in ClinVar

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=	T
GRCh38.p14 chr 7	NC_000007.14:g.99665212=	NC_000007.14:g.99665212C>T
GRCh37.p13 chr 7	NC_000007.13:g.99262835=	NC_000007.13:g.99262835C>T
CYP3A5 RefSeqGene (LRG_1431)	NG_007938.2:g.19787=	NG_007938.2:g.19787G>A
CYP3A5 transcript variant 1	NM_000777.5:c.624=	NM_000777.5:c.624G>A
CYP3A5 transcript variant 1	NM_000777.4:c.624=	NM_000777.4:c.624G>A
CYP3A5 transcript variant 1	NM_000777.3:c.624=	NM_000777.3:c.624G>A
CYP3A5 transcript variant 3	NR_033807.3:n.1243=	NR_033807.3:n.1243G>A
CYP3A5 transcript variant 3	NR_033807.2:n.1273=	NR_033807.2:n.1273G>A
CYP3A5 transcript variant 3	NR_033807.1:n.1245=	NR_033807.1:n.1245G>A
CYP3A5 transcript variant 4	NM_001291829.2:c.285=	NM_001291829.2:c.285G>A
CYP3A5 transcript variant 4	NM_001291829.1:c.285=	NM_001291829.1:c.285G>A
CYP3A5 transcript variant 5	NM_001291830.2:c.594=	NM_001291830.2:c.594G>A
CYP3A5 transcript variant 5	NM_001291830.1:c.594=	NM_001291830.1:c.594G>A
CYP3A5 transcript variant 5	NR_033809.1:n.986=	NR_033809.1:n.986G>A
CYP3A5 transcript variant 6	NR_033810.1:n.1226=	NR_033810.1:n.1226G>A
CYP3A5 transcript variant 4	NR_033808.1:n.1226=	NR_033808.1:n.1226G>A
CYP3A5 transcript variant 7	NR_033811.1:n.975=	NR_033811.1:n.975G>A
CYP3A5 transcript variant 8	NR_033812.1:n.867=	NR_033812.1:n.867G>A
cytochrome P450 3A5 isoform 1	NP_000768.1:p.Lys208=	NP_000768.1:p.Lys208=
cytochrome P450 3A5 isoform 3	NP_001278758.1:p.Lys95=	NP_001278758.1:p.Lys95=
cytochrome P450 3A5 isoform 4 precursor	NP_001278759.1:p.Lys198=	NP_001278759.1:p.Lys198=
ZSCAN25 transcript variant 7	NM_001350984.2:c.806-3883=	NM_001350984.2:c.806-3883C>T
ZSCAN25 transcript variant 8	NM_001350985.2:c.806-3883=	NM_001350985.2:c.806-3883C>T
ZSCAN25 transcript variant X5	XM_005250198.1:c.806-11992=	XM_005250198.1:c.806-11992C>T
ZSCAN25 transcript variant X8	XM_011515909.3:c.806-3883=	XM_011515909.3:c.806-3883C>T
ZSCAN25 transcript variant X9	XM_047420016.1:c.806-3883=	XM_047420016.1:c.806-3883C>T
ZSCAN25 transcript variant X10	XM_047420017.1:c.806-3883=	XM_047420017.1:c.806-3883C>T
ZSCAN25 transcript variant X13	XM_047420018.1:c.806-3883=	XM_047420018.1:c.806-3883C>T
ZSCAN25 transcript variant X14	XM_047420019.1:c.806-3883=	XM_047420019.1:c.806-3883C>T

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#.

103 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WUGSC_SSAHASNP	ss14134088	Dec 05, 2003 (119)
2	BIOVENTURES	ss32476142	May 24, 2005 (125)
3	EGP_SNPS	ss60197490	Oct 16, 2006 (127)
4	PHARMGKB_PAAR-UCHI	ss69371787	May 18, 2007 (127)
5	ILLUMINA	ss74883461	Dec 06, 2007 (129)
6	CCHMC-CAE-PGCORE	ss79314231	Dec 15, 2007 (130)
7	PHARMGKB_AB_DME	ss84155161	Dec 15, 2007 (130)
8	SNP500CANCER	ss105439784	Feb 05, 2009 (130)
9	KRIBB_YJKIM	ss119619350	Dec 01, 2009 (131)
10	ILLUMINA	ss152703961	Dec 01, 2009 (131)
11	ILLUMINA	ss159119264	Dec 01, 2009 (131)
12	SEATTLESEQ	ss159715234	Dec 01, 2009 (131)
13	ILLUMINA	ss159884673	Dec 01, 2009 (131)
14	PHARMGKB_PAAR-UCHI	ss161109922	Dec 01, 2009 (131)
15	ILLUMINA	ss169949687	Jul 04, 2010 (132)
16	BUSHMAN	ss197976973	Jul 04, 2010 (132)
17	1000GENOMES	ss223228490	Jul 14, 2010 (132)
18	ILLUMINA	ss244268485	Jul 04, 2010 (132)
19	NHLBI-ESP	ss342240801	May 09, 2011 (134)
20	ILLUMINA	ss479242577	May 04, 2012 (137)
21	ILLUMINA	ss479245267	May 04, 2012 (137)
22	ILLUMINA	ss479604592	Sep 08, 2015 (146)
23	ILLUMINA	ss480387493	May 04, 2012 (137)
24	ILLUMINA	ss484421998	May 04, 2012 (137)
25	ILLUMINA	ss485503765	May 04, 2012 (137)
26	1000GENOMES	ss490949797	May 04, 2012 (137)
27	CLINSEQ_SNP	ss491910495	May 04, 2012 (137)
28	ILLUMINA	ss533712051	Sep 08, 2015 (146)
29	TISHKOFF	ss560183971	Apr 25, 2013 (138)
30	ILLUMINA	ss779197459	Sep 08, 2015 (146)
31	ILLUMINA	ss781218646	Sep 08, 2015 (146)
32	ILLUMINA	ss782657458	Sep 08, 2015 (146)
33	ILLUMINA	ss831907895	Sep 08, 2015 (146)
34	ILLUMINA	ss832631995	Jul 13, 2019 (153)
35	ILLUMINA	ss834663060	Sep 08, 2015 (146)
36	JMKIDD_LAB	ss974465102	Aug 21, 2014 (142)
37	JMKIDD_LAB	ss1067490097	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1074831432	Aug 21, 2014 (142)
39	1000GENOMES	ss1326337913	Aug 21, 2014 (142)
40	EVA_UK10K_ALSPAC	ss1618799133	Apr 01, 2015 (144)
41	EVA_UK10K_TWINSUK	ss1661793166	Apr 01, 2015 (144)
42	EVA_EXAC	ss1688840991	Apr 01, 2015 (144)
43	EVA_MGP	ss1711173172	Apr 01, 2015 (144)
44	ILLUMINA	ss1752702668	Sep 08, 2015 (146)
45	WEILL_CORNELL_DGM	ss1927851259	Feb 12, 2016 (147)
46	ILLUMINA	ss1946215402	Feb 12, 2016 (147)
47	ILLUMINA	ss1959035635	Feb 12, 2016 (147)
48	HUMAN_LONGEVITY	ss2296200866	Dec 20, 2016 (150)
49	ILLUMINA	ss2634638264	Nov 08, 2017 (151)
50	ILLUMINA	ss2634638265	Nov 08, 2017 (151)
51	ILLUMINA	ss2634638266	Nov 08, 2017 (151)
52	ILLUMINA	ss2711117320	Nov 08, 2017 (151)
53	GNOMAD	ss2736598533	Nov 08, 2017 (151)
54	GNOMAD	ss2747871723	Nov 08, 2017 (151)
55	GNOMAD	ss2856765305	Nov 08, 2017 (151)
56	AFFY	ss2985413720	Nov 08, 2017 (151)
57	AFFY	ss2986045859	Nov 08, 2017 (151)
58	ILLUMINA	ss3022760748	Nov 08, 2017 (151)
59	CSIRBIOHTS	ss3029637921	Nov 08, 2017 (151)
60	ILLUMINA	ss3625934032	Oct 12, 2018 (152)
61	ILLUMINA	ss3629873017	Oct 12, 2018 (152)
62	ILLUMINA	ss3632543889	Oct 12, 2018 (152)
63	ILLUMINA	ss3633472116	Oct 12, 2018 (152)
64	ILLUMINA	ss3634197467	Oct 12, 2018 (152)
65	ILLUMINA	ss3635132965	Oct 12, 2018 (152)
66	ILLUMINA	ss3635877051	Oct 12, 2018 (152)
67	ILLUMINA	ss3636867351	Oct 12, 2018 (152)
68	ILLUMINA	ss3637630065	Oct 12, 2018 (152)
69	ILLUMINA	ss3638713083	Oct 12, 2018 (152)
70	ILLUMINA	ss3640840257	Oct 12, 2018 (152)
71	ILLUMINA	ss3643647666	Oct 12, 2018 (152)
72	ILLUMINA	ss3644948505	Oct 12, 2018 (152)
73	ILLUMINA	ss3653294770	Oct 12, 2018 (152)
74	ILLUMINA	ss3654175332	Oct 12, 2018 (152)
75	ILLUMINA	ss3726465309	Jul 13, 2019 (153)
76	ILLUMINA	ss3744293684	Jul 13, 2019 (153)
77	ILLUMINA	ss3745432993	Jul 13, 2019 (153)
78	PAGE_CC	ss3771386370	Jul 13, 2019 (153)
79	ILLUMINA	ss3772925844	Jul 13, 2019 (153)
80	KHV_HUMAN_GENOMES	ss3810096644	Jul 13, 2019 (153)
81	EVA	ss3824296376	Apr 26, 2020 (154)
82	EVA	ss3825724429	Apr 26, 2020 (154)
83	EVA	ss3830722350	Apr 26, 2020 (154)
84	SGDP_PRJ	ss3867981568	Apr 26, 2020 (154)
85	EVA	ss3984448806	Apr 26, 2021 (155)
86	EVA	ss3986390917	Apr 26, 2021 (155)
87	EVA	ss4017349809	Apr 26, 2021 (155)
88	TOPMED	ss4756563862	Apr 26, 2021 (155)
89	EVA	ss5237035234	Apr 26, 2021 (155)
90	1000G_HIGH_COVERAGE	ss5274031933	Oct 17, 2022 (156)
91	EVA	ss5375496687	Oct 17, 2022 (156)
92	HUGCELL_USP	ss5471003006	Oct 17, 2022 (156)
93	EVA	ss5509064478	Oct 17, 2022 (156)
94	1000G_HIGH_COVERAGE	ss5562812978	Oct 17, 2022 (156)
95	EVA	ss5624169000	Oct 17, 2022 (156)
96	SANFORD_IMAGENETICS	ss5624670290	Oct 17, 2022 (156)
97	SANFORD_IMAGENETICS	ss5643587250	Oct 17, 2022 (156)
98	EVA	ss5823255860	Oct 17, 2022 (156)
99	EVA	ss5847323005	Oct 17, 2022 (156)
100	EVA	ss5848146815	Oct 17, 2022 (156)
101	EVA	ss5860087443	Oct 17, 2022 (156)
102	EVA	ss5972771684	Oct 17, 2022 (156)
103	EVA	ss5979835141	Oct 17, 2022 (156)
104	1000Genomes	NC_000007.13 - 99262835	Oct 12, 2018 (152)
105	1000Genomes_30x	NC_000007.14 - 99665212	Oct 17, 2022 (156)
106	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 99262835	Oct 12, 2018 (152)
107	ExAC	NC_000007.13 - 99262835	Oct 12, 2018 (152)
108	gnomAD - Genomes	NC_000007.14 - 99665212	Apr 26, 2021 (155)
109	gnomAD - Exomes	NC_000007.13 - 99262835	Jul 13, 2019 (153)
110	GO Exome Sequencing Project	NC_000007.13 - 99262835	Oct 12, 2018 (152)
111	HapMap	NC_000007.14 - 99665212	Apr 26, 2020 (154)
112	Medical Genome Project healthy controls from Spanish population	NC_000007.13 - 99262835	Apr 26, 2020 (154)
113	The PAGE Study	NC_000007.14 - 99665212	Jul 13, 2019 (153)
114	MxGDAR/Encodat-PGx	NC_000007.13 - 99262835	Apr 26, 2021 (155)
115	PharmGKB Aggregated	NC_000007.14 - 99665212	Apr 26, 2020 (154)
116	Qatari	NC_000007.13 - 99262835	Apr 26, 2020 (154)
117	SGDP_PRJ	NC_000007.13 - 99262835	Apr 26, 2020 (154)
118	TopMed	NC_000007.14 - 99665212	Apr 26, 2021 (155)
119	UK 10K study - Twins	NC_000007.13 - 99262835	Oct 12, 2018 (152)
120	ALFA	NC_000007.14 - 99665212	Apr 26, 2021 (155)

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)
rs58867275	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss197976973, ss479242577, ss485503765, ss491910495, ss3643647666	NC_000007.12:99100770:C:T	NC_000007.14:99665211:C:T	(self)
38351822, 21340760, 8914766, 5762830, 754320, 288932, 1807, 9893189, 19998548, 21340760, ss223228490, ss342240801, ss479245267, ss479604592, ss480387493, ss484421998, ss490949797, ss533712051, ss560183971, ss779197459, ss781218646, ss782657458, ss831907895, ss832631995, ss834663060, ss974465102, ss1067490097, ss1074831432, ss1326337913, ss1618799133, ss1661793166, ss1688840991, ss1711173172, ss1752702668, ss1927851259, ss1946215402, ss1959035635, ss2634638264, ss2634638265, ss2634638266, ss2711117320, ss2736598533, ss2747871723, ss2856765305, ss2985413720, ss2986045859, ss3022760748, ss3029637921, ss3625934032, ss3629873017, ss3632543889, ss3633472116, ss3634197467, ss3635132965, ss3635877051, ss3636867351, ss3637630065, ss3638713083, ss3640840257, ss3644948505, ss3653294770, ss3654175332, ss3744293684, ss3745432993, ss3772925844, ss3824296376, ss3825724429, ss3830722350, ss3867981568, ss3984448806, ss3986390917, ss4017349809, ss5375496687, ss5509064478, ss5624169000, ss5624670290, ss5643587250, ss5823255860, ss5847323005, ss5848146815, ss5972771684, ss5979835141	NC_000007.13:99262834:C:T	NC_000007.14:99665211:C:T	(self)
50338913, 270638529, 3455286, 607839, 11626, 593941421, 12664220324, ss2296200866, ss3726465309, ss3771386370, ss3810096644, ss4756563862, ss5237035234, ss5274031933, ss5471003006, ss5562812978, ss5860087443	NC_000007.14:99665211:C:T	NC_000007.14:99665211:C:T	(self)
ss14134088	NT_007933.13:24496418:C:T	NC_000007.14:99665211:C:T	(self)
ss32476142, ss60197490, ss69371787, ss74883461, ss79314231, ss84155161, ss105439784, ss119619350, ss152703961, ss159119264, ss159715234, ss159884673, ss161109922, ss169949687, ss244268485	NT_007933.15:37295677:C:T	NC_000007.14:99665211:C:T	(self)

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

39 citations for rs10264272

PMID	Title	Author	Year	Journal
18341681	Graft rejection: pharmacogenetic analysis or drug anamnesis?	Pham VV et al.	2008	British journal of clinical pharmacology
18825162	Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans.	Perera MA et al.	2009	The pharmacogenomics journal
20354687	Explaining variability in ciclosporin exposure in adult kidney transplant recipients.	Press RR et al.	2010	European journal of clinical pharmacology
20459744	Cyclophosphamide-metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort study.	Gor PP et al.	2010	Breast cancer research
20959500	Induction of CYP3A4 by vinblastine: Role of the nuclear receptor NR1I2.	Smith NF et al.	2010	The Annals of pharmacotherapy
21206424	Novel polymorphisms associated with tacrolimus trough concentrations: results from a multicenter kidney transplant consortium.	Jacobson PA et al.	2011	Transplantation
21712189	Analysis of pharmacogenetic traits in two distinct South African populations.	Ikediobi O et al.	2011	Human genomics
21806386	Pharmacogenetics of calcineurin inhibitors in Brazilian renal transplant patients.	Santoro A et al.	2011	Pharmacogenomics
21950641	Effect of cytochrome P450 3A5 genotype on atorvastatin pharmacokinetics and its interaction with clarithromycin.	Shin J et al.	2011	Pharmacotherapy
22094953	Associations of ABCB1 3435C>T and IL-10-1082G>A polymorphisms with long-term sirolimus dose requirements in renal transplant patients.	Sam WJ et al.	2011	Transplantation
22445700	The impact of drug metabolizing enzyme polymorphisms on outcomes after antenatal corticosteroid use.	Haas DM et al.	2012	American journal of obstetrics and gynecology
22808112	Liver enzyme abnormalities and associated risk factors in HIV patients on efavirenz-based HAART with or without tuberculosis co-infection in Tanzania.	Mugusi S et al.	2012	PloS one
22871999	Concordance of DMET plus genotyping results with those of orthogonal genotyping methods.	Fernandez CA et al.	2012	Clinical pharmacology and therapeutics
23073467	Associations of ABCB1 and IL-10 genetic polymorphisms with sirolimus-induced dyslipidemia in renal transplant recipients.	Sam WJ et al.	2012	Transplantation
23133420	Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.	Suarez-Kurtz G et al.	2012	Frontiers in pharmacology
23922006	PharmGKB summary: cyclosporine and tacrolimus pathways.	Barbarino JM et al.	2013	Pharmacogenetics and genomics
24427273	Global pharmacogenomics: distribution of CYP3A5 polymorphisms and phenotypes in the Brazilian population.	Suarez-Kurtz G et al.	2014	PloS one
24557078	Genomewide association study of atazanavir pharmacokinetics and hyperbilirubinemia in AIDS Clinical Trials Group protocol A5202.	Johnson DH et al.	2014	Pharmacogenetics and genomics
24944790	Screening for 392 polymorphisms in 141 pharmacogenes.	Kim JY et al.	2014	Biomedical reports
25266489	Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China.	Zhang J et al.	2014	BMC genetics
25741362	Use of pharmacogenomics in pediatric renal transplant recipients.	Medeiros M et al.	2015	Frontiers in genetics
26091847	Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.	Wang L et al.	2015	BMC genetics
26485092	Genomewide Association Study of Tacrolimus Concentrations in African American Kidney Transplant Recipients Identifies Multiple CYP3A5 Alleles.	Oetting WS et al.	2016	American journal of transplantation
26667830	Genotype-guided tacrolimus dosing in African-American kidney transplant recipients.	Sanghavi K et al.	2017	The pharmacogenomics journal
26779253	An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3'-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients.	Swart M et al.	2015	Frontiers in genetics
26785747	Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.	Iskakova AN et al.	2016	BMC genetics
27233804	Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.	Jin T et al.	2016	BMC genetics
27767381	The effect of SNPs in CYP450 in chloroquine/primaquine Plasmodium vivax malaria treatment.	Sortica VA et al.	2016	Pharmacogenomics
28673292	Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women.	Mutagonda RF et al.	2017	Malaria journal
29193749	Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.	Borobia AM et al.	2018	Clinical and translational science
29681089	Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.	Padula AM et al.	2018	American journal of medical genetics. Part A
29775201	Tacrolimus Population Pharmacokinetics and Multiple CYP3A5 Genotypes in Black and White Renal Transplant Recipients.	Campagne O et al.	2018	Journal of clinical pharmacology
30093869	Biological Predictors of Clozapine Response: A Systematic Review.	Samanaite R et al.	2018	Frontiers in psychiatry
30953600	Tacrolimus troughs and genetic determinants of metabolism in kidney transplant recipients: A comparison of four ancestry groups.	Mohamed ME et al.	2019	American journal of transplantation
33519226	Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon.	Fernandes MR et al.	2021	Pharmacogenomics and personalized medicine
34621706	Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.	Kim B et al.	2021	Translational and clinical pharmacology
34958284	Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes.	Muyambo S et al.	2022	Omics
35089958	Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.	Goljan E et al.	2022	PloS one
35158880	Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy in Children with Cancer: A Systematic Review and Meta-Analysis.	Uittenboogaard A et al.	2022	Cancers

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs10264272