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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs776746

Current Build 157

Released September 3, 2024

Organism
Homo sapiens
Position
chr7:99672916 (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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.299312 (79225/264690, TOPMED)
T=0.112628 (26293/233450, ALFA)
T=0.273288 (40738/149066, GnomAD_genomes) (+ 6 more)
T=0.25161 (19486/77444, 38KJPN)
T=0.2272 (1643/7230, Korea4K)
T=0.3846 (2463/6404, 1000G_30X)
T=0.2840 (1361/4792, PharmGKB)
T=0.3993 (753/1886, HapMap)
T=0.2249 (412/1832, Korea1K)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CYP3A5 : Splice Acceptor Variant
ZSCAN25 : Intron Variant
Publications
498 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 233450 T=0.112628 C=0.887372 0.03241 0.807154 0.160437 32
European Sub 198972 T=0.070035 C=0.929965 0.005146 0.865076 0.129777 1
African Sub 10628 T=0.69646 C=0.30354 0.487204 0.094279 0.418517 0
African Others Sub 356 T=0.829 C=0.171 0.679775 0.022472 0.297753 0
African American Sub 10272 T=0.69188 C=0.30812 0.48053 0.096768 0.422702 0
Asian Sub 822 T=0.287 C=0.713 0.080292 0.506083 0.413625 0
East Asian Sub 644 T=0.278 C=0.722 0.07764 0.521739 0.400621 0
Other Asian Sub 178 T=0.320 C=0.680 0.089888 0.449438 0.460674 0
Latin American 1 Sub 976 T=0.289 C=0.711 0.086066 0.508197 0.405738 0
Latin American 2 Sub 9006 T=0.2041 C=0.7959 0.048634 0.640462 0.310904 5
South Asian Sub 5062 T=0.2501 C=0.7499 0.070723 0.570525 0.358751 3
Other Sub 7984 T=0.1671 C=0.8329 0.052355 0.718186 0.229459 32


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
TopMed Global Study-wide 264690 T=0.299312 C=0.700688
Allele Frequency Aggregator Total Global 233450 T=0.112628 C=0.887372
Allele Frequency Aggregator European Sub 198972 T=0.070035 C=0.929965
Allele Frequency Aggregator African Sub 10628 T=0.69646 C=0.30354
Allele Frequency Aggregator Latin American 2 Sub 9006 T=0.2041 C=0.7959
Allele Frequency Aggregator Other Sub 7984 T=0.1671 C=0.8329
Allele Frequency Aggregator South Asian Sub 5062 T=0.2501 C=0.7499
Allele Frequency Aggregator Latin American 1 Sub 976 T=0.289 C=0.711
Allele Frequency Aggregator Asian Sub 822 T=0.287 C=0.713
gnomAD v4 - Genomes Global Study-wide 149066 T=0.273288 C=0.726712
gnomAD v4 - Genomes European Sub 78624 T=0.06844 C=0.93156
gnomAD v4 - Genomes African Sub 41412 T=0.69528 C=0.30472
gnomAD v4 - Genomes American Sub 15276 T=0.22054 C=0.77946
gnomAD v4 - Genomes East Asian Sub 5168 T=0.2765 C=0.7235
gnomAD v4 - Genomes South Asian Sub 4822 T=0.3005 C=0.6995
gnomAD v4 - Genomes Ashkenazi Jewish Sub 3470 T=0.0824 C=0.9176
gnomAD v4 - Genomes Middle Eastern sub 294 T=0.105 C=0.895
38KJPN JAPANESE Study-wide 77444 T=0.25161 C=0.74839
Korean Genome Project 4K KOREAN Study-wide 7230 T=0.2272 C=0.7728
1000Genomes_30X Global Study-wide 6404 T=0.3846 C=0.6154
1000Genomes_30X African Sub 1786 T=0.8175 C=0.1825
1000Genomes_30X Europe Sub 1266 T=0.0545 C=0.9455
1000Genomes_30X South Asian Sub 1202 T=0.3419 C=0.6581
1000Genomes_30X East Asian Sub 1170 T=0.2786 C=0.7214
1000Genomes_30X American Sub 980 T=0.201 C=0.799
PharmGKB Aggregated Global Study-wide 4792 T=0.2840 C=0.7160
PharmGKB Aggregated PA136096713 Sub 2128 T=0.2669 C=0.7331
PharmGKB Aggregated PA130243626 Sub 462 T=0.221 C=0.779
PharmGKB Aggregated PA149793606 Sub 348 T=0.333 C=0.667
PharmGKB Aggregated PA131953488 Sub 274 T=0.339 C=0.661
PharmGKB Aggregated PA131954059 Sub 274 T=0.339 C=0.661
PharmGKB Aggregated PA164946097 Sub 262 T=0.740 C=0.260
PharmGKB Aggregated PA142196590 Sub 194 T=0.263 C=0.737
PharmGKB Aggregated PA136110459 Sub 184 T=0.179 C=0.821
PharmGKB Aggregated PA156029446 Sub 158 T=0.259 C=0.741
PharmGKB Aggregated PA130150648 Sub 154 T=0.091 C=0.909
PharmGKB Aggregated PA131638180 Sub 132 T=0.121 C=0.879
PharmGKB Aggregated PA155625256 Sub 66 T=0.23 C=0.77
PharmGKB Aggregated PA130150889 Sub 58 T=0.16 C=0.84
PharmGKB Aggregated PA151371514 Sub 40 T=0.23 C=0.78
PharmGKB Aggregated PA131649870 Sub 36 T=0.11 C=0.89
PharmGKB Aggregated PA130491309 Sub 22 T=0.14 C=0.86
HapMap Global Study-wide 1886 T=0.3993 C=0.6007
HapMap American Sub 766 T=0.238 C=0.762
HapMap African Sub 692 T=0.715 C=0.285
HapMap Asian Sub 252 T=0.266 C=0.734
HapMap Europe Sub 176 T=0.051 C=0.949
Korean Genome Project KOREAN Study-wide 1832 T=0.2249 C=0.7751
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.99672916T>A
GRCh38.p14 chr 7 NC_000007.14:g.99672916T>C
GRCh38.p14 chr 7 NC_000007.14:g.99672916T>G
GRCh37.p13 chr 7 NC_000007.13:g.99270539C>T
GRCh37.p13 chr 7 NC_000007.13:g.99270539C>A
GRCh37.p13 chr 7 NC_000007.13:g.99270539C>G
CYP3A5 RefSeqGene (LRG_1431) NG_007938.2:g.12083A>T
CYP3A5 RefSeqGene (LRG_1431) NG_007938.2:g.12083A>G
CYP3A5 RefSeqGene (LRG_1431) NG_007938.2:g.12083A>C
Gene: CYP3A5, cytochrome P450 family 3 subfamily A member 5 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CYP3A5 transcript variant 4 NM_001291829.2:c. N/A Splice Acceptor Variant
CYP3A5 transcript variant 1 NM_000777.5:c.219-237A>T N/A Intron Variant
CYP3A5 transcript variant 2 NM_001190484.3:c.219-237A…

NM_001190484.3:c.219-237A>T

N/A Intron Variant
CYP3A5 transcript variant 5 NM_001291830.2:c.189-237A…

NM_001291830.2:c.189-237A>T

N/A Intron Variant
CYP3A5 transcript variant 3 NR_033807.3:n. N/A Splice Acceptor Variant
Gene: ZSCAN25, zinc finger and SCAN domain containing 25 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
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 7 NM_001350984.2:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant 8 NM_001350985.2: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 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 X8 XM_011515909.3: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 X9 XM_047420016.1:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X10 XM_047420017.1:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X13 XM_047420018.1:c. N/A Genic Downstream Transcript Variant
ZSCAN25 transcript variant X14 XM_047420019.1: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
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: 227764 )
ClinVar Accession Disease Names Clinical Significance
RCV000830072.9 not provided Benign
Allele: C (allele ID: 20105 )
ClinVar Accession Disease Names Clinical Significance
RCV000005370.3 Hypertension, salt-sensitive essential, susceptibility to Risk-Factor
RCV002227926.2 refractory myasthenia gravis Association
RCV002292440.3 Tacrolimus response Drug-Response
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 T= A C G
GRCh38.p14 chr 7 NC_000007.14:g.99672916= NC_000007.14:g.99672916T>A NC_000007.14:g.99672916T>C NC_000007.14:g.99672916T>G
GRCh37.p13 chr 7 NC_000007.13:g.99270539C>T NC_000007.13:g.99270539C>A NC_000007.13:g.99270539= NC_000007.13:g.99270539C>G
CYP3A5 RefSeqGene (LRG_1431) NG_007938.2:g.12083= NG_007938.2:g.12083A>T NG_007938.2:g.12083A>G NG_007938.2:g.12083A>C
CYP3A5 transcript variant 1 NM_000777.3:c.219-237G>A NM_000777.3:c.219-237G>T NM_000777.3:c.219-237= NM_000777.3:c.219-237G>C
CYP3A5 transcript variant 1 NM_000777.5:c.219-237= NM_000777.5:c.219-237A>T NM_000777.5:c.219-237A>G NM_000777.5:c.219-237A>C
CYP3A5 transcript variant 2 NM_001190484.1:c.219-237G>A NM_001190484.1:c.219-237G>T NM_001190484.1:c.219-237= NM_001190484.1:c.219-237G>C
CYP3A5 transcript variant 2 NM_001190484.3:c.219-237= NM_001190484.3:c.219-237A>T NM_001190484.3:c.219-237A>G NM_001190484.3:c.219-237A>C
CYP3A5 transcript variant 5 NM_001291830.2:c.189-237= NM_001291830.2:c.189-237A>T NM_001291830.2:c.189-237A>G NM_001291830.2:c.189-237A>C
CYP3A5 transcript variant X1 XM_005250169.1:c.189-237G>A XM_005250169.1:c.189-237G>T XM_005250169.1:c.189-237= XM_005250169.1:c.189-237G>C
CYP3A5 transcript variant X5 XM_005250173.1:c.-331-237G>A XM_005250173.1:c.-331-237G>T XM_005250173.1:c.-331-237= XM_005250173.1:c.-331-237G>C
ZSCAN25 transcript variant X5 XM_005250198.1:c.806-4288C>T XM_005250198.1:c.806-4288C>A XM_005250198.1:c.806-4288= XM_005250198.1:c.806-4288C>G
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#.

177 SubSNP, 11 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 KWOK ss903337 Oct 05, 2000 (86)
2 KWOK ss1982931 Oct 18, 2000 (87)
3 YUSUKE ss3226600 Sep 28, 2001 (100)
4 RIKENSNPRC ss6312290 Feb 20, 2003 (111)
5 WUGSC_SSAHASNP ss14566641 Dec 05, 2003 (120)
6 BIOVENTURES ss32476137 May 24, 2005 (125)
7 SI_EXO ss52056856 Oct 15, 2006 (127)
8 EGP_SNPS ss60197479 Oct 15, 2006 (127)
9 AFFY ss66208782 Nov 30, 2006 (127)
10 ILLUMINA ss66852111 Nov 30, 2006 (127)
11 ILLUMINA ss67828254 Nov 30, 2006 (127)
12 ILLUMINA ss67989704 Nov 30, 2006 (127)
13 PHARMGKB_PAAR-UCHI ss68756186 May 17, 2007 (127)
14 PHARMGKB_PAAR-SJCRH ss69364200 May 17, 2007 (127)
15 PHARMGKB_CREATE ss69364341 May 17, 2007 (127)
16 PHARMGKB_PAAR-SJCRH ss69365065 May 17, 2007 (127)
17 PHARMGKB_PAAR-SJCRH ss69365774 May 17, 2007 (127)
18 PHARMGKB_APP ss69366578 May 17, 2007 (127)
19 PHARMGKB_APP ss69366579 May 17, 2007 (127)
20 PHARMGKB_COBRA ss69367769 May 17, 2007 (127)
21 PHARMGKB_COBRA ss69369042 May 17, 2007 (127)
22 PHARMGKB_COBRA ss69370431 May 17, 2007 (127)
23 PHARMGKB_PAAR-UCHI ss69371750 May 17, 2007 (127)
24 ILLUMINA ss70948612 May 24, 2008 (130)
25 ILLUMINA ss71554232 May 17, 2007 (127)
26 ILLUMINA ss75886836 Dec 07, 2007 (129)
27 AFFY ss76304543 Dec 07, 2007 (129)
28 ILLUMINA ss79269303 Dec 15, 2007 (130)
29 HGSV ss79734120 Dec 15, 2007 (130)
30 KRIBB_YJKIM ss83560736 Dec 15, 2007 (130)
31 PHARMGKB_PAAR-UCHI ss84151966 Dec 15, 2007 (130)
32 PHARMGKB_AB_DME ss84155156 Dec 15, 2007 (130)
33 HGSV ss85388822 Dec 15, 2007 (130)
34 BGI ss104454157 Feb 04, 2009 (130)
35 PHARMGKB_PAAR-UCHI ss105109712 Feb 04, 2009 (130)
36 PHARMGKB_PAAR-UCHI ss105110081 Feb 04, 2009 (130)
37 SNP500CANCER ss105439789 Feb 04, 2009 (130)
38 1000GENOMES ss114159336 Jan 25, 2009 (130)
39 ILLUMINA-UK ss116216734 Feb 14, 2009 (130)
40 ILLUMINA ss122830137 Dec 01, 2009 (131)
41 ILLUMINA ss154445949 Dec 01, 2009 (131)
42 ILLUMINA ss159620783 Dec 01, 2009 (131)
43 ILLUMINA ss160912644 Dec 01, 2009 (131)
44 PHARMGKB_PAAR-UCHI ss161109926 Dec 01, 2009 (131)
45 COMPLETE_GENOMICS ss164958373 Jul 04, 2010 (132)
46 ILLUMINA ss172344473 Jul 04, 2010 (132)
47 AFFY ss173194831 Jul 04, 2010 (132)
48 ILLUMINA ss174537978 Jul 04, 2010 (132)
49 BUSHMAN ss197977036 Jul 04, 2010 (132)
50 1000GENOMES ss223228512 Jul 14, 2010 (132)
51 1000GENOMES ss234092936 Jul 15, 2010 (132)
52 1000GENOMES ss241025085 Jul 15, 2010 (132)
53 ILLUMINA ss244310845 Jul 04, 2010 (132)
54 GMI ss279457201 May 04, 2012 (137)
55 PJP ss293932705 May 09, 2011 (134)
56 ILLUMINA ss481668847 May 04, 2012 (137)
57 ILLUMINA ss481699564 May 04, 2012 (137)
58 ILLUMINA ss482666858 Sep 08, 2015 (146)
59 ILLUMINA ss485629045 May 04, 2012 (137)
60 ILLUMINA ss537511643 Sep 08, 2015 (146)
61 TISHKOFF ss560183998 Apr 25, 2013 (138)
62 SSMP ss654585676 Apr 25, 2013 (138)
63 ILLUMINA ss778712864 Aug 21, 2014 (142)
64 ILLUMINA ss783260126 Aug 21, 2014 (142)
65 ILLUMINA ss784213577 Aug 21, 2014 (142)
66 ILLUMINA ss825599821 Apr 01, 2015 (144)
67 ILLUMINA ss832521031 Apr 01, 2015 (144)
68 ILLUMINA ss833131704 Aug 21, 2014 (142)
69 ILLUMINA ss833722532 Aug 21, 2014 (142)
70 ILLUMINA ss834172056 Aug 21, 2014 (142)
71 EVA-GONL ss984590250 Aug 21, 2014 (142)
72 JMKIDD_LAB ss1074831453 Aug 21, 2014 (142)
73 1000GENOMES ss1326338104 Aug 21, 2014 (142)
74 DDI ss1431222423 Apr 01, 2015 (144)
75 EVA_DECODE ss1594169240 Apr 01, 2015 (144)
76 EVA_UK10K_ALSPAC ss1618799238 Apr 01, 2015 (144)
77 EVA_UK10K_TWINSUK ss1661793271 Apr 01, 2015 (144)
78 EVA_SVP ss1712974424 Apr 01, 2015 (144)
79 ILLUMINA ss1752702680 Sep 08, 2015 (146)
80 HAMMER_LAB ss1805132755 Sep 08, 2015 (146)
81 WEILL_CORNELL_DGM ss1927851289 Feb 12, 2016 (147)
82 ILLUMINA ss1959035656 Feb 12, 2016 (147)
83 GENOMED ss1970771439 Jul 19, 2016 (147)
84 JJLAB ss2024608477 Sep 14, 2016 (149)
85 EVA ss2137544478 Oct 31, 2024 (157)
86 USC_VALOUEV ss2152830326 Dec 20, 2016 (150)
87 HUMAN_LONGEVITY ss2296201246 Dec 20, 2016 (150)
88 SYSTEMSBIOZJU ss2626796213 Nov 08, 2017 (151)
89 ILLUMINA ss2634638281 Nov 08, 2017 (151)
90 ILLUMINA ss2635175218 Nov 08, 2017 (151)
91 GRF ss2708540895 Nov 08, 2017 (151)
92 ILLUMINA ss2711117332 Nov 08, 2017 (151)
93 ILLUMINA ss2711117333 Nov 08, 2017 (151)
94 GNOMAD ss2856765814 Nov 08, 2017 (151)
95 AFFY ss2985413734 Nov 08, 2017 (151)
96 AFFY ss2986045878 Nov 08, 2017 (151)
97 SWEGEN ss3001707615 Nov 08, 2017 (151)
98 ILLUMINA ss3022760766 Nov 08, 2017 (151)
99 BIOINF_KMB_FNS_UNIBA ss3026096631 Nov 08, 2017 (151)
100 CSHL ss3347752654 Nov 08, 2017 (151)
101 ILLUMINA ss3629873044 Oct 12, 2018 (152)
102 ILLUMINA ss3632543898 Oct 12, 2018 (152)
103 ILLUMINA ss3633472123 Oct 12, 2018 (152)
104 ILLUMINA ss3634197474 Oct 12, 2018 (152)
105 ILLUMINA ss3635132977 Oct 12, 2018 (152)
106 ILLUMINA ss3635877057 Oct 12, 2018 (152)
107 ILLUMINA ss3636867363 Oct 12, 2018 (152)
108 ILLUMINA ss3637630071 Oct 12, 2018 (152)
109 ILLUMINA ss3638713097 Oct 12, 2018 (152)
110 ILLUMINA ss3639358346 Oct 12, 2018 (152)
111 ILLUMINA ss3639707597 Oct 12, 2018 (152)
112 ILLUMINA ss3640840269 Oct 12, 2018 (152)
113 ILLUMINA ss3643647679 Oct 12, 2018 (152)
114 URBANLAB ss3648711027 Oct 12, 2018 (152)
115 ILLUMINA ss3653294788 Oct 12, 2018 (152)
116 ILLUMINA ss3654175347 Oct 12, 2018 (152)
117 EGCUT_WGS ss3669463601 Jul 13, 2019 (153)
118 EVA_DECODE ss3720300975 Jul 13, 2019 (153)
119 ILLUMINA ss3726465323 Jul 13, 2019 (153)
120 ACPOP ss3734902530 Jul 13, 2019 (153)
121 ILLUMINA ss3745433005 Jul 13, 2019 (153)
122 EVA ss3766925190 Jul 13, 2019 (153)
123 ILLUMINA ss3772925856 Jul 13, 2019 (153)
124 KHV_HUMAN_GENOMES ss3810096692 Jul 13, 2019 (153)
125 EVA ss3830722362 Apr 26, 2020 (154)
126 EVA ss3844314999 Apr 26, 2020 (154)
127 HGDP ss3847885143 Apr 26, 2020 (154)
128 SGDP_PRJ ss3867981636 Apr 26, 2020 (154)
129 KRGDB ss3915271030 Apr 26, 2020 (154)
130 KOGIC ss3962189647 Apr 26, 2020 (154)
131 EVA ss3984592431 Apr 26, 2021 (155)
132 EVA ss3985311218 Apr 26, 2021 (155)
133 EVA ss4017349819 Apr 26, 2021 (155)
134 TOPMED ss4756565471 Apr 26, 2021 (155)
135 TOMMO_GENOMICS ss6081190841 Oct 31, 2024 (157)
136 EVA ss6241635311 Oct 31, 2024 (157)
137 EVA ss6301280605 Oct 31, 2024 (157)
138 EVA ss6321947363 Oct 31, 2024 (157)
139 EVA ss6322314984 Oct 31, 2024 (157)
140 EVA ss6331469510 Oct 31, 2024 (157)
141 YEGNASUBRAMANIAN_LAB ss6340796322 Oct 31, 2024 (157)
142 EVA ss6349711455 Oct 31, 2024 (157)
143 EVA ss6350127422 Oct 31, 2024 (157)
144 EVA ss6350127423 Oct 31, 2024 (157)
145 EVA ss6350127424 Oct 31, 2024 (157)
146 EVA ss6350127425 Oct 31, 2024 (157)
147 KOGIC ss6374329865 Oct 31, 2024 (157)
148 GNOMAD ss6431768256 Oct 31, 2024 (157)
149 GNOMAD ss6431768257 Oct 31, 2024 (157)
150 GNOMAD ss6763864749 Oct 31, 2024 (157)
151 TOMMO_GENOMICS ss8184663009 Oct 31, 2024 (157)
152 QINSY-LAB ss8237630498 Oct 31, 2024 (157)
153 1000G_HIGH_COVERAGE ss8274032071 Oct 31, 2024 (157)
154 EVA ss8315266717 Oct 31, 2024 (157)
155 EVA ss8375496984 Oct 31, 2024 (157)
156 HUGCELL_USP ss8471003136 Oct 31, 2024 (157)
157 EVA ss8509064485 Oct 31, 2024 (157)
158 1000G_HIGH_COVERAGE ss8562813208 Oct 31, 2024 (157)
159 SANFORD_IMAGENETICS ss8624670294 Oct 31, 2024 (157)
160 SANFORD_IMAGENETICS ss8643587318 Oct 31, 2024 (157)
161 TOMMO_GENOMICS ss8725375030 Oct 31, 2024 (157)
162 EVA ss8799403419 Oct 31, 2024 (157)
163 EVA ss8799732140 Oct 31, 2024 (157)
164 YY_MCH ss8808925638 Oct 31, 2024 (157)
165 EVA ss8823255906 Oct 31, 2024 (157)
166 EVA ss8847323008 Oct 31, 2024 (157)
167 EVA ss8848146824 Oct 31, 2024 (157)
168 EVA ss8856021519 Oct 31, 2024 (157)
169 EVA ss8860087635 Oct 31, 2024 (157)
170 EVA ss8935876044 Oct 31, 2024 (157)
171 EVA ss8972771770 Oct 31, 2024 (157)
172 EVA ss8979835149 Oct 31, 2024 (157)
173 EVA ss8981325937 Oct 31, 2024 (157)
174 EVA ss8981430112 Oct 31, 2024 (157)
175 EVA ss8981974722 Oct 31, 2024 (157)
176 EVA ss8981974723 Oct 31, 2024 (157)
177 EVA ss8982567034 Oct 31, 2024 (157)
178 1000Genomes_30X NC_000007.14 - 99672916 Oct 31, 2024 (157)
179 gnomAD v4 - Exomes

Submission ignored due to conflicting rows:
Row 27083055 (NC_000007.14:99672915:T:A 2/1106432)
Row 27083056 (NC_000007.14:99672915:T:C 999214/1106016)

- Oct 31, 2024 (157)
180 gnomAD v4 - Exomes

Submission ignored due to conflicting rows:
Row 27083055 (NC_000007.14:99672915:T:A 2/1106432)
Row 27083056 (NC_000007.14:99672915:T:C 999214/1106016)

- Oct 31, 2024 (157)
181 gnomAD v4 - Genomes NC_000007.14 - 99672916 Oct 31, 2024 (157)
182 HapMap NC_000007.14 - 99672916 Apr 26, 2020 (154)
183 Korean Genome Project NC_000007.14 - 99672916 Apr 26, 2020 (154)
184 Korean Genome Project 4K NC_000007.14 - 99672916 Oct 31, 2024 (157)
185 PharmGKB Aggregated NC_000007.14 - 99672916 Apr 26, 2020 (154)
186 38KJPN NC_000007.14 - 99672916 Oct 31, 2024 (157)
187 TopMed NC_000007.14 - 99672916 Apr 26, 2021 (155)
188 ALFA NC_000007.14 - 99672916 Oct 31, 2024 (157)
189 ClinVar RCV000005370.3 Oct 17, 2022 (156)
190 ClinVar RCV000830072.9 Oct 31, 2024 (157)
191 ClinVar RCV002227926.2 Oct 17, 2022 (156)
192 ClinVar RCV002292440.3 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)
rs10361242 Feb 27, 2004 (120)
rs11266830 Apr 05, 2004 (121)
rs58244770 May 24, 2008 (130)
rs386613022 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss6349711455 NC_000007.13:99270538:C:A NC_000007.14:99672915:T:A
ss6431768256 NC_000007.14:99672915:T:A NC_000007.14:99672915:T:A
ss79734120, ss85388822, ss3639358346, ss3639707597 NC_000007.11:98915189:C:C NC_000007.14:99672915:T:C (self)
ss114159336, ss116216734, ss164958373, ss197977036, ss279457201, ss293932705, ss481668847, ss825599821, ss1594169240, ss1712974424, ss2635175218, ss3643647679, ss3847885143 NC_000007.12:99108474:C:C NC_000007.14:99672915:T:C (self)
ss223228512, ss234092936, ss241025085, ss481699564, ss482666858, ss485629045, ss537511643, ss560183998, ss654585676, ss778712864, ss783260126, ss784213577, ss832521031, ss833131704, ss833722532, ss834172056, ss984590250, ss1074831453, ss1326338104, ss1431222423, ss1618799238, ss1661793271, ss1752702680, ss1805132755, ss1927851289, ss1959035656, ss1970771439, ss2024608477, ss2152830326, ss2626796213, ss2634638281, ss2708540895, ss2711117332, ss2711117333, ss2856765814, ss2985413734, ss2986045878, ss3001707615, ss3022760766, ss3347752654, ss3629873044, ss3632543898, ss3633472123, ss3634197474, ss3635132977, ss3635877057, ss3636867363, ss3637630071, ss3638713097, ss3640840269, ss3653294788, ss3654175347, ss3669463601, ss3734902530, ss3745433005, ss3766925190, ss3772925856, ss3830722362, ss3867981636, ss3915271030, ss3984592431, ss3985311218, ss4017349819, ss6241635311, ss6301280605, ss6322314984, ss6331469510, ss6340796322, ss6349711455, ss8184663009, ss8237630498, ss8315266717, ss8375496984, ss8509064485, ss8624670294, ss8643587318, ss8799403419, ss8799732140, ss8823255906, ss8847323008, ss8848146824, ss8935876044, ss8972771770, ss8979835149, ss8981325937, ss8981430112, ss8981974722, ss8981974723, ss8982567034 NC_000007.13:99270538:C:C NC_000007.14:99672915:T:C (self)
RCV000005370.3, RCV002227926.2, RCV002292440.3, 50339143, 290766636, 3455298, 18567648, 24181763, 11635, 98566661, 593943030, 11304204624, ss2137544478, ss2296201246, ss3026096631, ss3648711027, ss3720300975, ss3726465323, ss3810096692, ss3844314999, ss3962189647, ss4756565471, ss6081190841, ss6321947363, ss6350127422, ss6350127423, ss6350127424, ss6350127425, ss6374329865, ss6431768257, ss6763864749, ss8274032071, ss8471003136, ss8562813208, ss8725375030, ss8808925638, ss8856021519, ss8860087635 NC_000007.14:99672915:T:C NC_000007.14:99672915:T:C (self)
ss14566641 NT_007933.13:24504122:C:C NC_000007.14:99672915:T:C (self)
ss52056856 NT_007933.14:24504814:C:C NC_000007.14:99672915:T:C (self)
ss903337, ss1982931, ss3226600, ss6312290, ss32476137, ss60197479, ss66208782, ss66852111, ss67828254, ss67989704, ss68756186, ss69364200, ss69364341, ss69365065, ss69365774, ss69366578, ss69366579, ss69367769, ss69369042, ss69370431, ss69371750, ss70948612, ss71554232, ss75886836, ss76304543, ss79269303, ss83560736, ss84151966, ss84155156, ss104454157, ss105109712, ss105110081, ss105439789, ss122830137, ss154445949, ss159620783, ss160912644, ss161109926, ss172344473, ss173194831, ss174537978, ss244310845 NT_007933.15:37303381:C:C NC_000007.14:99672915:T:C (self)
ss6349711455 NC_000007.13:99270538:C:G NC_000007.14:99672915:T:G
Help

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

498 citations for rs776746
PMID Title Author Year Journal
12694072 Tacrolimus dosing in pediatric heart transplant patients is related to CYP3A5 and MDR1 gene polymorphisms. Zheng H et al. 2003 American journal of transplantation
12966368 Genetic polymorphisms of the CYP3A4, CYP3A5, and MDR-1 genes and pharmacokinetics of the calcineurin inhibitors cyclosporine and tacrolimus. Hesselink DA et al. 2003 Clinical pharmacology and therapeutics
14578760 Impact of cytochrome p450 3A5 genetic polymorphism on tacrolimus doses and concentration-to-dose ratio in renal transplant recipients. Thervet E et al. 2003 Transplantation
14747421 Tacrolimus dosing in adult lung transplant patients is related to cytochrome P4503A5 gene polymorphism. Zheng H et al. 2004 Journal of clinical pharmacology
15167702 The effect of CYP3A5 and MDR1 (ABCB1) polymorphisms on cyclosporine and tacrolimus dose requirements and trough blood levels in stable renal transplant patients. Haufroid V et al. 2004 Pharmacogenetics
15226679 CYP3A5*1-carrying graft liver reduces the concentration/oral dose ratio of tacrolimus in recipients of living-donor liver transplantation. Goto M et al. 2004 Pharmacogenetics
15502717 Influence of CYP3A5 and MDR1 (ABCB1) polymorphisms on the pharmacokinetics of tacrolimus in renal transplant recipients. Tsuchiya N et al. 2004 Transplantation
15521904 MDR1 haplotypes derived from exons 21 and 26 do not affect the steady-state pharmacokinetics of tacrolimus in renal transplant patients. Mai I et al. 2004 British journal of clinical pharmacology
15707415 Consequences of genetic polymorphisms for sirolimus requirements after renal transplant in patients on primary sirolimus therapy. Anglicheau D et al. 2005 American journal of transplantation
15729180 Tacrolimus pharmacogenetics: the CYP3A5*1 allele predicts low dose-normalized tacrolimus blood concentrations in whites and South Asians. Macphee IA et al. 2005 Transplantation
15808586 Genetic polymorphisms of CYP3A5 genes and concentration of the cyclosporine and tacrolimus. Zhao Y et al. 2005 Transplantation proceedings
15919447 Impact of CYP3A5 and MDR1(ABCB1) C3435T polymorphisms on the pharmacokinetics of tacrolimus in renal transplant recipients. Tada H et al. 2005 Transplantation proceedings
16146556 Influence of CYP3A5 and MDR1 polymorphisms on tacrolimus concentration in the early stage after renal transplantation. Zhang X et al. 2005 Clinical transplantation
16172230 Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome p450 genes involved in catechol estrogen metabolism. Starr JR et al. 2005 Cancer epidemiology, biomarkers & prevention
16249748 Sirolimus and tacrolimus trough concentrations and dose requirements after kidney transplantation in relation to CYP3A5 and MDR1 polymorphisms and steroids. Mourad M et al. 2005 Transplantation
16421475 Influence of CYP3A5 gene polymorphisms of donor rather than recipient to tacrolimus individual dose requirement in liver transplantation. Yu S et al. 2006 Transplantation
16424824 Effect of intestinal CYP3A5 on postoperative tacrolimus trough levels in living-donor liver transplant recipients. Uesugi M et al. 2006 Pharmacogenetics and genomics
16501005 Effect of CYP3A5 polymorphism on tacrolimus metabolic clearance in vitro. Dai Y et al. 2006 Drug metabolism and disposition
16628701 Tacrolimus dose requirement in relation to donor and recipient ABCB1 and CYP3A5 gene polymorphisms in Chinese liver transplant patients. Wei-lin W et al. 2006 Liver transplantation
16753004 Influence of different allelic variants of the CYP3A and ABCB1 genes on the tacrolimus pharmacokinetic profile of Chinese renal transplant recipients. Cheung CY et al. 2006 Pharmacogenomics
16815317 CYP3A5*3 influences sirolimus oral clearance in de novo and stable renal transplant recipients. Le Meur Y et al. 2006 Clinical pharmacology and therapeutics
16906020 Cyp3A4, Cyp3A5, and MDR-1 genetic influences on tacrolimus pharmacokinetics in renal transplant recipients. Roy JN et al. 2006 Pharmacogenetics and genomics
17015051 Population pharmacokinetic and pharmacogenomic analysis of tacrolimus in pediatric living-donor liver transplant recipients. Fukudo M et al. 2006 Clinical pharmacology and therapeutics
17032130 The influence of genetic polymorphisms of cytochrome P450 3A5 and ABCB1 on starting dose- and weight-standardized tacrolimus trough concentrations after kidney transplantation in relation to renal function. Mourad M et al. 2006 Clinical chemistry and laboratory medicine
17049058 CYP3A5 and ABCB1 polymorphisms and tacrolimus pharmacokinetics in renal transplant candidates: guidelines from an experimental study. Haufroid V et al. 2006 American journal of transplantation
17192769 CYP3A5 genotype markedly influences the pharmacokinetics of tacrolimus and sirolimus in kidney transplant recipients. Renders L et al. 2007 Clinical pharmacology and therapeutics
17391324 Influence of the CYP3A5 and MDR1 genetic polymorphisms on the pharmacokinetics of tacrolimus in healthy Korean subjects. Choi JH et al. 2007 British journal of clinical pharmacology
17430486 Influence of the CYP3A5 genotype on tacrolimus pharmacokinetics and pharmacodynamics in young kidney transplant recipients. Ferraresso M et al. 2007 Pediatric transplantation
17495880 CYP3A5 and CYP3A4 but not MDR1 single-nucleotide polymorphisms determine long-term tacrolimus disposition and drug-related nephrotoxicity in renal recipients. Kuypers DR et al. 2007 Clinical pharmacology and therapeutics
17568575 Polymorphisms of tumor necrosis factor-alpha, interleukin-10, cytochrome P450 3A5 and ABCB1 in Chinese liver transplant patients treated with immunosuppressant tacrolimus. Li D et al. 2007 Clinica chimica acta; international journal of clinical chemistry
17615053 Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk. Bethke L et al. 2007 BMC cancer
17635182 Tacrolimus pharmacokinetics and pharmacogenetics: influence of adenosine triphosphate-binding cassette B1 (ABCB1) and cytochrome (CYP) 3A polymorphisms. Op den Buijsch RA et al. 2007 Fundamental & clinical pharmacology
17875118 Population pharmacokinetics of tacrolimus and CYP3A5, MDR1 and IL-10 polymorphisms in adult liver transplant patients. Li D et al. 2007 Journal of clinical pharmacy and therapeutics
18248681 Prevalence of common disease-associated variants in Asian Indians. Pemberton TJ et al. 2008 BMC genetics
18334918 CYP3A5 genotype is not associated with a higher risk of acute rejection in tacrolimus-treated renal transplant recipients. Hesselink DA et al. 2008 Pharmacogenetics and genomics
18341670 Impact of CYP3A5 genetic polymorphism on pharmacokinetics of tacrolimus in healthy Japanese subjects. Suzuki Y et al. 2008 British journal of clinical pharmacology
18429967 Lack of tacrolimus circadian pharmacokinetics and CYP3A5 pharmacogenetics in the early and maintenance stages in Japanese renal transplant recipients. Satoh S et al. 2008 British journal of clinical pharmacology
18443548 The effect of CYP3A5 polymorphisms on the pharmacokinetics of tacrolimus in adolescent kidney transplant recipients. Tirelli S et al. 2008 Medical science monitor
18547414 Genotyping panel for assessing response to cancer chemotherapy. Dai Z et al. 2008 BMC medical genomics
18566991 Joint effects of inflammation and androgen metabolism on prostate cancer severity. Rebbeck TR et al. 2008 International journal of cancer
18589174 Significant impact of gene polymorphisms on tacrolimus but not cyclosporine dosing in Asian renal transplant recipients. Loh PT et al. 2008 Transplantation proceedings
18784455 The pharmacokinetics and pharmacogenomics of efavirenz and lopinavir/ritonavir in HIV-infected persons requiring hemodialysis. Gupta SK et al. 2008 AIDS (London, England)
18825162 Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans. Perera MA et al. 2009 The pharmacogenomics journal
19067682 Influence of CYP3A5 genetic polymorphism on tacrolimus daily dose requirements and acute rejection in renal graft recipients. Quteineh L et al. 2008 Basic & clinical pharmacology & toxicology
19076156 Polymorphisms of drug-metabolizing enzymes (GST, CYP2B6 and CYP3A) affect the pharmacokinetics of thiotepa and tepa. Ekhart C et al. 2009 British journal of clinical pharmacology
19125240 CYP3A5 *1 allele associated with tacrolimus trough concentrations but not subclinical acute rejection or chronic allograft nephropathy in Japanese renal transplant recipients. Satoh S et al. 2009 European journal of clinical pharmacology
19154420 The impact of cytokines on the expression of drug transporters, cytochrome P450 enzymes and chemokine receptors in human PBMC. Liptrott NJ et al. 2009 British journal of pharmacology
19258929 Explaining variability in tacrolimus pharmacokinetics to optimize early exposure in adult kidney transplant recipients. Press RR et al. 2009 Therapeutic drug monitoring
19289993 The effect of CYP3A5 and ABCB1 single nucleotide polymorphisms on tacrolimus dose requirements in Caucasian liver transplant patients. Provenzani A et al. 2009 Annals of transplantation
19343327 Impact of CYP3A5 and CYP3A4 gene polymorphisms on dose requirement of calcineurin inhibitors, cyclosporine and tacrolimus, in renal allograft recipients of North India. Singh R et al. 2009 Naunyn-Schmiedeberg's archives of pharmacology
19376514 Association of cyclophosphamide drug-metabolizing enzyme polymorphisms and chemotherapy-related ovarian failure in breast cancer survivors. Su HI et al. 2010 Fertility and sterility
19384171 Tacrolimus concentrations in relation to CYP3A and ABCB1 polymorphisms among solid organ transplant recipients in Korea. Jun KR et al. 2009 Transplantation
19545678 Effect of CYP3A5 genotype on renal allograft recipients treated with tacrolimus. Chen JS et al. 2009 Transplantation proceedings
19584153 Clinical relevance of a pharmacogenetic approach using multiple candidate genes to predict response and resistance to imatinib therapy in chronic myeloid leukemia. Kim DH et al. 2009 Clinical cancer research
19694740 No significant effect of ABCB1 haplotypes on the pharmacokinetics of fluvastatin, pravastatin, lovastatin, and rosuvastatin. Keskitalo JE et al. 2009 British journal of clinical pharmacology
19865079 Population pharmacokinetics and pharmacogenetics of tacrolimus in de novo pediatric kidney transplant recipients. Zhao W et al. 2009 Clinical pharmacology and therapeutics
19907160 CYP3A4 and CYP3A5 polymorphisms and blood pressure response to amlodipine among African-American men and women with early hypertensive renal disease. Bhatnagar V et al. 2010 American journal of nephrology
19916993 A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans. Mukonzo JK et al. 2009 British journal of clinical pharmacology
19934400 Genetic predictors of interindividual variability in hepatic CYP3A4 expression. Lamba V et al. 2010 The Journal of pharmacology and experimental therapeutics
20041908 The role of CYP3A5 genotypes in dose requirements of tacrolimus and everolimus after heart transplantation. Kniepeiss D et al. 2011 Clinical transplantation
20170205 Effect of CYP3A and ABCB1 single nucleotide polymorphisms on the pharmacokinetics and pharmacodynamics of calcineurin inhibitors: Part I. Staatz CE et al. 2010 Clinical pharmacokinetics
20214406 Effect of CYP3A and ABCB1 single nucleotide polymorphisms on the pharmacokinetics and pharmacodynamics of calcineurin inhibitors: Part II. Staatz CE et al. 2010 Clinical pharmacokinetics
20354687 Explaining variability in ciclosporin exposure in adult kidney transplant recipients. Press RR et al. 2010 European journal of clinical pharmacology
20368718 The effect of CYP3A5 polymorphism on dose-adjusted cyclosporine concentration in renal transplant recipients: a meta-analysis. Zhu HJ et al. 2011 The pharmacogenomics journal
20383212 Engraftment syndrome, but not acute GVHD, younger age, CYP3A5 or MDR1 polymorphisms, increases tacrolimus clearance in pediatric hematopoietic SCT. Yanagisawa R et al. 2011 Bone marrow transplantation
20386561 Intronic polymorphism in CYP3A4 affects hepatic expression and response to statin drugs. Wang D et al. 2011 The pharmacogenomics journal
20389299 Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism. Xu CF et al. 2010 British journal of cancer
20393454 Optimization of initial tacrolimus dose using pharmacogenetic testing. Thervet E et al. 2010 Clinical pharmacology and therapeutics
20415563 CYP3A5 and ABCB1 polymorphisms influence tacrolimus concentrations in peripheral blood mononuclear cells after renal transplantation. Capron A et al. 2010 Pharmacogenomics
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
20479955 Factors affecting the long-term response to tacrolimus in renal transplant patients: pharmacokinetic and pharmacogenetic approach. Katsakiori PF et al. 2010 International journal of medical sciences
20505666 Donor P-gp polymorphisms strongly influence renal function and graft loss in a cohort of renal transplant recipients on cyclosporine therapy in a long-term follow-up. Woillard JB et al. 2010 Clinical pharmacology and therapeutics
20538623 Systematic genetic and genomic analysis of cytochrome P450 enzyme activities in human liver. Yang X et al. 2010 Genome research
20696882 Population pharmacokinetic-pharmacogenetic study of nevirapine in HIV-infected Cambodian patients. Chou M et al. 2010 Antimicrobial agents and chemotherapy
20818295 Differential impact of the CYP3A5*1 and CYP3A5*3 alleles on pre-dose concentrations of two tacrolimus formulations. Wehland M et al. 2011 Pharmacogenetics and genomics
20818834 Population pharmacokinetics and Bayesian estimation of tacrolimus exposure in renal transplant recipients on a new once-daily formulation. Benkali K et al. 2010 Clinical pharmacokinetics
20847277 Genotyping of DNA samples isolated from formalin-fixed paraffin-embedded tissues using preamplification. Baak-Pablo R et al. 2010 The Journal of molecular diagnostics
20921971 Mapping genes that predict treatment outcome in admixed populations. Baye TM et al. 2010 The pharmacogenomics journal
20959500 Induction of CYP3A4 by vinblastine: Role of the nuclear receptor NR1I2. Smith NF et al. 2010 The Annals of pharmacotherapy
20970601 Genetic polymorphisms and individualized tacrolimus dosing. López-Montenegro Soria MA et al. 2010 Transplantation proceedings
21047202 Using genetic and clinical factors to predict tacrolimus dose in renal transplant recipients. Wang P et al. 2010 Pharmacogenomics
21058046 Genetics of salt-sensitive hypertension. Sanada H et al. 2011 Current hypertension reports
21072155 Effect of gene polymorphisms on the levels of calcineurin inhibitors in Indian renal transplant recipients. Ashavaid T et al. 2010 Indian journal of nephrology
21076384 CYP3A5 *1 allele: impacts on early acute rejection and graft function in tacrolimus-based renal transplant recipients. Min SI et al. 2010 Transplantation
21094796 Influence of CYP3A5 and MDR1(ABCB1) polymorphisms on the pharmacokinetics of tacrolimus in Chinese renal transplant recipients. Rong G et al. 2010 Transplantation proceedings
21094797 Value of CYP3A5 genotyping on determining initial dosages of tacrolimus for Chinese renal transplant recipients. Zhang J et al. 2010 Transplantation proceedings
21102498 Cytochrome P450 genetic polymorphisms influence the serum concentration of calcineurin inhibitors in allogeneic hematopoietic SCT recipients. Onizuka M et al. 2011 Bone marrow transplantation
21122163 The pharmacogenetics of imanitib. Dulucq S et al. 2010 Genome medicine
21206424 Novel polymorphisms associated with tacrolimus trough concentrations: results from a multicenter kidney transplant consortium. Jacobson PA et al. 2011 Transplantation
21219401 Evaluation of limited sampling methods for estimation of tacrolimus exposure in adult kidney transplant recipients. Barraclough KA et al. 2011 British journal of clinical pharmacology
21273673 Frequencies and roles of CYP3A5, CYP3A4 and ABCB1 single nucleotide polymorphisms in Italian teenagers after kidney transplantation. Turolo S et al. 2010 Pharmacological reports
21289622 Pharmacogenomics of the RNA world: structural RNA polymorphisms in drug therapy. Sadee W et al. 2011 Clinical pharmacology and therapeutics
21331500 Tacrolimus dosing in Chinese renal transplant recipients: a population-based pharmacogenetics study. Li L et al. 2011 European journal of clinical pharmacology
21359226 The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected. Pena SD et al. 2011 PloS one
21359536 Impact of interleukin-10 gene polymorphisms on tacrolimus dosing requirements in Chinese liver transplant patients during the early posttransplantation period. Zhang X et al. 2011 European journal of clinical pharmacology
21366650 Pharmacogenetic determinants for interindividual difference of tacrolimus pharmacokinetics 1 year after renal transplantation. Miura M et al. 2011 Journal of clinical pharmacy and therapeutics
21434840 The influence of pharmacogenetics and cofactors on clinical outcomes in kidney transplantation. Picard N et al. 2011 Expert opinion on drug metabolism & toxicology
21436775 Polymorphisms in CYP3A5*3 and MDR1, and haplotype modulate response to plasma levels of tacrolimus in Chinese renal transplant patients. Wu P et al. 2011 Annals of transplantation
21480817 Pharmacogenetics of tacrolimus after renal transplantation: analysis of polymorphisms in genes encoding 16 drug metabolizing enzymes. Tavira B et al. 2011 Clinical chemistry and laboratory medicine
21480951 Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients. Lim JS et al. 2011 British journal of clinical pharmacology
21528942 Influence of cytochrome P450 3A5 (CYP3A5) genetic polymorphism on the pharmacokinetics of the prolonged-release, once-daily formulation of tacrolimus in stable renal transplant recipients. Glowacki F et al. 2011 Clinical pharmacokinetics
21544031 Expression of CYP3A5 and P-glycoprotein in renal allografts with histological signs of calcineurin inhibitor nephrotoxicity. Metalidis C et al. 2011 Transplantation
21566507 CYP3A5 genotype is not related to the intrapatient variability of tacrolimus clearance. Pashaee N et al. 2011 Therapeutic drug monitoring
21635144 Impact of the CYP3A4*1G polymorphism and its combination with CYP3A5 genotypes on tacrolimus pharmacokinetics in renal transplant patients. Miura M et al. 2011 Pharmacogenomics
21671989 Dosing equation for tacrolimus using genetic variants and clinical factors. Passey C et al. 2011 British journal of clinical pharmacology
21677300 CYP3A5 and ABCB1 polymorphisms in donor and recipient: impact on Tacrolimus dose requirements and clinical outcome after renal transplantation. Glowacki F et al. 2011 Nephrology, dialysis, transplantation
21698374 The interactions of age, genetics, and disease severity on tacrolimus dosing requirements after pediatric kidney and liver transplantation. de Wildt SN et al. 2011 European journal of clinical pharmacology
21711429 Influence of CYP3A5 polymorphism on tacrolimus maintenance doses and serum levels after renal transplantation: age dependency and pharmacological interaction with steroids. Ferraris JR et al. 2011 Pediatric transplantation
21738081 PharmGKB summary: carbamazepine pathway. Thorn CF et al. 2011 Pharmacogenetics and genomics
21770725 The P450 oxidoreductase *28 SNP is associated with low initial tacrolimus exposure and increased dose requirements in CYP3A5-expressing renal recipients. de Jonge H et al. 2011 Pharmacogenomics
21806386 Pharmacogenetics of calcineurin inhibitors in Brazilian renal transplant patients. Santoro A et al. 2011 Pharmacogenomics
21839244 Pharmacogenetic study of ABCB1 and CYP3A5 genes during the first year following heart transplantation regarding tacrolimus or cyclosporine levels. Jordán de Luna C et al. 2011 Transplantation proceedings
21851254 Association between CYP3A5 polymorphisms and blood pressure in kidney transplant recipients receiving calcineurin inhibitors. Ferraresso M et al. 2011 Clinical and experimental hypertension (New York, N.Y.
21886016 Lower tacrolimus daily dose requirements and acute rejection rates in the CYP3A5 nonexpressers than expressers. Tang HL et al. 2011 Pharmacogenetics and genomics
21896346 Polymorphisms in genes that regulate cyclosporine metabolism affect cyclosporine blood levels and clinical outcomes in patients who receive allogeneic hematopoietic stem cell transplantation. Koh Y et al. 2012 Biology of blood and marrow transplantation
21903774 A new functional CYP3A4 intron 6 polymorphism significantly affects tacrolimus pharmacokinetics in kidney transplant recipients. Elens L et al. 2011 Clinical chemistry
21916909 Association of ABCB1, CYP3A4*18B and CYP3A5*3 genotypes with the pharmacokinetics of tacrolimus in healthy Chinese subjects: a population pharmacokinetic analysis. Shi XJ et al. 2011 Journal of clinical pharmacy and therapeutics
21918509 Pharmacogenomics: application to the management of cardiovascular disease. Johnson JA et al. 2011 Clinical pharmacology and therapeutics
21922127 Influence of CYP3A5 and ABCB1 gene polymorphisms and other factors on tacrolimus dosing in Caucasian liver and kidney transplant patients. Provenzani A et al. 2011 International journal of molecular medicine
21930396 Age and CYP3A5 genotype affect tacrolimus dosing requirements after transplant in pediatric heart recipients. Gijsen V et al. 2011 The Journal of heart and lung transplantation
21935354 Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. Dewey FE et al. 2011 PLoS genetics
21950641 Effect of cytochrome P450 3A5 genotype on atorvastatin pharmacokinetics and its interaction with clarithromycin. Shin J et al. 2011 Pharmacotherapy
21955043 Validation of single nucleotide polymorphisms associated with acute rejection in kidney transplant recipients using a large multi-center cohort. Oetting WS et al. 2011 Transplant international
21998633 Functional evaluation of genetic and environmental regulators of p450 mRNA levels. Wang D et al. 2011 PloS one
22006096 Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver. Schröder A et al. 2013 The pharmacogenomics journal
22007612 Interaction analysis between genetic polymorphisms and pharmacodynamic effect in patients treated with adjunctive cilostazol to dual antiplatelet therapy: results of the ACCEL-TRIPLE (Accelerated Platelet Inhibition by Triple Antiplatelet Therapy According to Gene Polymorphism) study. Kim IS et al. 2012 British journal of clinical pharmacology
22015057 Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study. Garcia-Donas J et al. 2011 The Lancet. Oncology
22075549 Population pharmacokinetics and pharmacogenetics of tacrolimus in healthy Chinese volunteers. Xue L et al. 2011 Pharmacology
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36362548 Comparison of Tacrolimus Intra-Patient Variability during 6-12 Months after Kidney Transplantation between CYP3A5 Expressers and Nonexpressers. Nuchjumroon A et al. 2022 Journal of clinical medicine
36598552 The impact of single nucleotide polymorphisms on return-to-work after taxane-based chemotherapy in breast cancer. Hjorth CF et al. 2023 Cancer chemotherapy and pharmacology
36632298 Gene polymorphisms and risk of head and neck squamous cell carcinoma: a systematic review. Rajabi-Moghaddam M et al. 2022 Reports of practical oncology and radiotherapy
36660495 Pilot study: genetic distribution of AR, FGF5, SULT1A1 and CYP3A5 polymorphisms in male Mexican population with androgenetic alopecia. Martinez-Chapoy D et al. 2022 International journal of molecular epidemiology and genetics
36827667 Risk Factors for Rivaroxaban-Related Bleeding Events-Possible Role of Pharmacogenetics: Case Series. Šimičević L et al. 2023 Pharmacy (Basel, Switzerland)
37228580 Immunogenetics and pharmacogenetics of allergic asthma in Africa. Mabelane T et al. 2023 Frontiers in allergy
Help

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

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post825+45319f0