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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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 157

Released September 3, 2024

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=0.0041080 (5757/1401408, GnomAD_exomes)
T=0.007484 (2330/311328, ALFA)
T=0.042476 (11243/264690, TOPMED) (+ 15 more)
T=0.037488 (5594/149222, GnomAD_genomes)
T=0.011982 (1453/121268, ExAC)
T=0.06201 (4880/78700, PAGE_STUDY)
T=0.00001 (1/77444, 38KJPN)
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
Reported in ClinVar
Gene : Consequence
CYP3A5 : Synonymous Variant
ZSCAN25 : Intron Variant
Publications
53 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


Help

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 1401408 C=0.9958920 T=0.0041080
gnomAD v4 - Exomes European Sub 1165370 C=0.9993281 T=0.0006719
gnomAD v4 - Exomes South Asian Sub 86254 C=0.99957 T=0.00043
gnomAD v4 - Exomes American Sub 44718 C=0.99045 T=0.00955
gnomAD v4 - Exomes East Asian Sub 39700 C=1.00000 T=0.00000
gnomAD v4 - Exomes African Sub 33464 C=0.86726 T=0.13274
gnomAD v4 - Exomes Ashkenazi Jewish Sub 26134 C=1.00000 T=0.00000
gnomAD v4 - Exomes Middle Eastern sub 5768 C=0.9882 T=0.0118
Allele Frequency Aggregator Total Global 311328 C=0.992516 T=0.007484
Allele Frequency Aggregator European Sub 268326 C=0.998904 T=0.001096
Allele Frequency Aggregator African Sub 15664 C=0.88579 T=0.11421
Allele Frequency Aggregator Other Sub 15176 C=0.98873 T=0.01127
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 v4 - Genomes Global Study-wide 149222 C=0.962512 T=0.037488
gnomAD v4 - Genomes European Sub 78618 C=0.99919 T=0.00081
gnomAD v4 - Genomes African Sub 41536 C=0.87553 T=0.12447
gnomAD v4 - Genomes American Sub 15292 C=0.97718 T=0.02282
gnomAD v4 - Genomes East Asian Sub 5190 C=1.0000 T=0.0000
gnomAD v4 - Genomes South Asian Sub 4822 C=0.9996 T=0.0004
gnomAD v4 - Genomes Ashkenazi Jewish Sub 3470 C=1.0000 T=0.0000
gnomAD v4 - Genomes Middle Eastern sub 294 C=0.969 T=0.031
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
38KJPN JAPANESE Study-wide 77444 C=0.99999 T=0.00001
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
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 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
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: T (allele ID: 3210224 )
ClinVar Accession Disease Names Clinical Significance
RCV003914459.1 CYP3A5-related disorder Likely-Benign
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= 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
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#.

112 SubSNP, 18 Frequency, 1 ClinVar 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 TOMMO_GENOMICS ss6081190464 Oct 31, 2024 (157)
90 EVA ss6241635122 Oct 31, 2024 (157)
91 EVA ss6301280523 Oct 31, 2024 (157)
92 EVA ss6322314976 Oct 31, 2024 (157)
93 EVA ss6404379021 Oct 31, 2024 (157)
94 GNOMAD ss6431767255 Oct 31, 2024 (157)
95 GNOMAD ss6763863355 Oct 31, 2024 (157)
96 EVA ss8237035234 Oct 31, 2024 (157)
97 1000G_HIGH_COVERAGE ss8274031933 Oct 31, 2024 (157)
98 EVA ss8375496687 Oct 31, 2024 (157)
99 HUGCELL_USP ss8471003006 Oct 31, 2024 (157)
100 EVA ss8509064478 Oct 31, 2024 (157)
101 1000G_HIGH_COVERAGE ss8562812978 Oct 31, 2024 (157)
102 EVA ss8624169000 Oct 31, 2024 (157)
103 SANFORD_IMAGENETICS ss8624670290 Oct 31, 2024 (157)
104 SANFORD_IMAGENETICS ss8643587250 Oct 31, 2024 (157)
105 EVA ss8823255860 Oct 31, 2024 (157)
106 EVA ss8847323005 Oct 31, 2024 (157)
107 EVA ss8848146815 Oct 31, 2024 (157)
108 EVA ss8860087443 Oct 31, 2024 (157)
109 EVA ss8972771684 Oct 31, 2024 (157)
110 EVA ss8979835141 Oct 31, 2024 (157)
111 LNCC-LABINFO ss8982126870 Oct 31, 2024 (157)
112 EVA ss8982567030 Oct 31, 2024 (157)
113 1000Genomes NC_000007.13 - 99262835 Oct 12, 2018 (152)
114 1000Genomes_30X NC_000007.14 - 99665212 Oct 31, 2024 (157)
115 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 99262835 Oct 12, 2018 (152)
116 ExAC NC_000007.13 - 99262835 Oct 12, 2018 (152)
117 gnomAD v4 - Exomes NC_000007.14 - 99665212 Oct 31, 2024 (157)
118 gnomAD v4 - Genomes NC_000007.14 - 99665212 Oct 31, 2024 (157)
119 GO Exome Sequencing Project NC_000007.13 - 99262835 Oct 12, 2018 (152)
120 HapMap NC_000007.14 - 99665212 Apr 26, 2020 (154)
121 Medical Genome Project healthy controls from Spanish population NC_000007.13 - 99262835 Apr 26, 2020 (154)
122 The PAGE Study NC_000007.14 - 99665212 Jul 13, 2019 (153)
123 MxGDAR/Encodat-PGx NC_000007.13 - 99262835 Apr 26, 2021 (155)
124 PharmGKB Aggregated NC_000007.14 - 99665212 Apr 26, 2020 (154)
125 Qatari NC_000007.13 - 99262835 Apr 26, 2020 (154)
126 SGDP_PRJ NC_000007.13 - 99262835 Apr 26, 2020 (154)
127 38KJPN NC_000007.14 - 99665212 Oct 31, 2024 (157)
128 TopMed NC_000007.14 - 99665212 Apr 26, 2021 (155)
129 UK 10K study - Twins NC_000007.13 - 99262835 Oct 12, 2018 (152)
130 ALFA NC_000007.14 - 99665212 Oct 31, 2024 (157)
131 ClinVar RCV003914459.1 Oct 31, 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)
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, 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, ss6241635122, ss6301280523, ss6322314976, ss8375496687, ss8509064478, ss8624169000, ss8624670290, ss8643587250, ss8823255860, ss8847323005, ss8848146815, ss8972771684, ss8979835141, ss8982567030 NC_000007.13:99262834:C:T NC_000007.14:99665211:C:T (self)
RCV003914459.1, 50338913, 27082053, 290765241, 3455286, 607839, 11626, 98566284, 593941421, 12988334533, ss2296200866, ss3726465309, ss3771386370, ss3810096644, ss4756563862, ss6081190464, ss6404379021, ss6431767255, ss6763863355, ss8237035234, ss8274031933, ss8471003006, ss8562812978, ss8860087443, ss8982126870 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)
Help

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

53 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
30801552 Genetic Variants Associated With Immunosuppressant Pharmacokinetics and Adverse Effects in the DeKAF Genomics Genome-wide Association Studies. Oetting WS et al. 2019 Transplantation
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
32366712 Influence of CYP2C8, CYP3A4, and CYP3A5 Host Genotypes on Early Recurrence of Plasmodium vivax. Almeida ACG et al. 2020 Antimicrobial agents and chemotherapy
32847973 Phase I, Pharmacogenomic, Drug Interaction Study of Sorafenib and Bevacizumab in Combination with Paclitaxel in Patients with Advanced Refractory Solid Tumors. Chiorean EG et al. 2020 Molecular cancer therapeutics
33519226 Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. Fernandes MR et al. 2021 Pharmacogenomics and personalized medicine
33805706 SLCO1B1 Phenotype and CYP3A5 Polymorphism Significantly Affect Atorvastatin Bioavailability. Zubiaur P et al. 2021 Journal of personalized medicine
33829662 Genetic variants related to successful migraine prophylaxis with verapamil. Cutrer FM et al. 2021 Molecular genetics & genomic medicine
33995083 Dexketoprofen Pharmacokinetics is not Significantly Altered by Genetic Polymorphism. Mejía-Abril G et al. 2021 Frontiers in pharmacology
34262462 Pharmacogenomics of Impaired Tyrosine Kinase Inhibitor Response: Lessons Learned From Chronic Myelogenous Leukemia. Kaehler M et al. 2021 Frontiers in pharmacology
34382722 Profiling of warfarin pharmacokinetics-associated genetic variants: Black Africans portray unique genetic markers important for an African specific warfarin pharmacogenetics-dosing algorithm. Ndadza A et al. 2021 Journal of thrombosis and haemostasis
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
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
34974452 The Impact of Donor and Recipient Genetic Variation on Outcomes After Solid Organ Transplantation: A Scoping Review and Future Perspectives. Li Y et al. 2022 Transplantation
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
35761855 Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective. Nthontho KC et al. 2022 Pharmacogenomics and personalized medicine
35846994 Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing. Silgado-Guzmán DF et al. 2022 Frontiers in pharmacology
36065758 CYP2C8*3 and *4 define CYP2C8 phenotype: An approach with the substrate cinitapride. Campodónico DM et al. 2022 Clinical and translational science
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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post825+45319f0