Name: rs41303343
Published: September 3, 2024
License: Open Access

Welcome to the Reference SNP (rs) Report

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

Reference SNP (rs) Report

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

rs41303343

Current Build 157

Released September 3, 2024

Organism: Homo sapiens
Position: chr7:99652771 (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: dupA
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.0026619 (3728/1400494, GnomAD_exomes)
dupA=0.032657 (8644/264690, TOPMED)
dupA=0.029255 (4366/149238, GnomAD_genomes) (+ 7 more)
dupA=0.009438 (1116/118250, ExAC)
dupA=0.00474 (450/94932, ALFA)
dupA=0.03371 (422/12518, GO-ESP)
dupA=0.0329 (211/6404, 1000G_30X)
dupA=0.0315 (158/5008, 1000G)
dupA=0.0000 (0/3854, ALSPAC)
dupA=0.0003 (1/3708, TWINSUK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CYP3A5 : Frameshift Variant
ZSCAN25 : Intron Variant
Publications: 29 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	94932	A=0.99526	AA=0.00474	0.991004	0.000485	0.008511	32
European	Sub	81642	A=0.99976	AA=0.00024	0.99951	0.0	0.00049	0
African	Sub	4306	A=0.9078	AA=0.0922	0.826289	0.010683	0.163028	1
African Others	Sub	174	A=0.879	AA=0.121	0.770115	0.011494	0.218391	0
African American	Sub	4132	A=0.9090	AA=0.0910	0.828654	0.010649	0.160697	1
Asian	Sub	3330	A=1.0000	AA=0.0000	1.0	0.0	0.0	N/A
East Asian	Sub	2674	A=1.0000	AA=0.0000	1.0	0.0	0.0	N/A
Other Asian	Sub	656	A=1.000	AA=0.000	1.0	0.0	0.0	N/A
Latin American 1	Sub	436	A=0.984	AA=0.016	0.96789	0.0	0.03211	0
Latin American 2	Sub	928	A=0.994	AA=0.006	0.987069	0.0	0.012931	0
South Asian	Sub	274	A=1.000	AA=0.000	1.0	0.0	0.0	N/A
Other	Sub	4016	A=0.9950	AA=0.0050	0.99004	0.0	0.00996	0

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD v4 - Exomes	Global	Study-wide	1400494	- No frequency provided	dupA=0.0026619
gnomAD v4 - Exomes	European	Sub	1164738	- No frequency provided	dupA=0.0000421
gnomAD v4 - Exomes	South Asian	Sub	86118	- No frequency provided	dupA=0.00019
gnomAD v4 - Exomes	American	Sub	44654	- No frequency provided	dupA=0.00549
gnomAD v4 - Exomes	East Asian	Sub	39682	- No frequency provided	dupA=0.00000
gnomAD v4 - Exomes	African	Sub	33450	- No frequency provided	dupA=0.10188
gnomAD v4 - Exomes	Ashkenazi Jewish	Sub	26096	- No frequency provided	dupA=0.00000
gnomAD v4 - Exomes	Middle Eastern	sub	5756	- No frequency provided	dupA=0.0017
TopMed	Global	Study-wide	264690	- No frequency provided	dupA=0.032657
gnomAD v4 - Genomes	Global	Study-wide	149238	- No frequency provided	dupA=0.029255
gnomAD v4 - Genomes	European	Sub	78646	- No frequency provided	dupA=0.00031
gnomAD v4 - Genomes	African	Sub	41528	- No frequency provided	dupA=0.10106
gnomAD v4 - Genomes	American	Sub	15292	- No frequency provided	dupA=0.00929
gnomAD v4 - Genomes	East Asian	Sub	5188	- No frequency provided	dupA=0.0002
gnomAD v4 - Genomes	South Asian	Sub	4822	- No frequency provided	dupA=0.0004
gnomAD v4 - Genomes	Ashkenazi Jewish	Sub	3468	- No frequency provided	dupA=0.0000
gnomAD v4 - Genomes	Middle Eastern	sub	294	- No frequency provided	dupA=0.000
ExAC	Global	Study-wide	118250	- No frequency provided	dupA=0.009438
ExAC	Europe	Sub	72022	- No frequency provided	dupA=0.00012
ExAC	Asian	Sub	23778	- No frequency provided	dupA=0.00008
ExAC	American	Sub	11250	- No frequency provided	dupA=0.00382
ExAC	African	Sub	10316	- No frequency provided	dupA=0.10246
ExAC	Other	Sub	884	- No frequency provided	dupA=0.006
Allele Frequency Aggregator	Total	Global	94932	A=0.99526	dupA=0.00474
Allele Frequency Aggregator	European	Sub	81642	A=0.99976	dupA=0.00024
Allele Frequency Aggregator	African	Sub	4306	A=0.9078	dupA=0.0922
Allele Frequency Aggregator	Other	Sub	4016	A=0.9950	dupA=0.0050
Allele Frequency Aggregator	Asian	Sub	3330	A=1.0000	dupA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	928	A=0.994	dupA=0.006
Allele Frequency Aggregator	Latin American 1	Sub	436	A=0.984	dupA=0.016
Allele Frequency Aggregator	South Asian	Sub	274	A=1.000	dupA=0.000
GO Exome Sequencing Project	Global	Study-wide	12518	- No frequency provided	dupA=0.03371
GO Exome Sequencing Project	European American	Sub	8254	- No frequency provided	dupA=0.0004
GO Exome Sequencing Project	African American	Sub	4264	- No frequency provided	dupA=0.0983
1000Genomes_30X	Global	Study-wide	6404	- No frequency provided	dupA=0.0329
1000Genomes_30X	African	Sub	1786	- No frequency provided	dupA=0.1170
1000Genomes_30X	Europe	Sub	1266	- No frequency provided	dupA=0.0000
1000Genomes_30X	South Asian	Sub	1202	- No frequency provided	dupA=0.0000
1000Genomes_30X	East Asian	Sub	1170	- No frequency provided	dupA=0.0000
1000Genomes_30X	American	Sub	980	- No frequency provided	dupA=0.002
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupA=0.0315
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.1180
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.0000
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.0000
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.000
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.003
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupA=0.0000
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupA=0.0003

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.99652771dup
GRCh37.p13 chr 7	NC_000007.13:g.99250394dup
CYP3A5 RefSeqGene (LRG_1431)	NG_007938.2:g.32228dup

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.806-1632… NM_001350984.2:c.806-16324dup	N/A	Intron Variant
ZSCAN25 transcript variant 8	NM_001350985.2:c.806-1632… NM_001350985.2:c.806-16324dup	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.806-1632… XM_011515909.3:c.806-16324dup	N/A	Intron Variant
ZSCAN25 transcript variant X9	XM_047420016.1:c.806-1632… XM_047420016.1:c.806-16324dup	N/A	Intron Variant
ZSCAN25 transcript variant X10	XM_047420017.1:c.806-1632… XM_047420017.1:c.806-16324dup	N/A	Intron Variant
ZSCAN25 transcript variant X13	XM_047420018.1:c.806-1632… XM_047420018.1:c.806-16324dup	N/A	Intron Variant
ZSCAN25 transcript variant X14	XM_047420019.1:c.806-1632… XM_047420019.1:c.806-16324dup	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.1035dup	T [ACC] > Y [TACC]	Coding Sequence Variant
cytochrome P450 3A5 isoform 1	NP_000768.1:p.Thr346fs	T (Thr) > Y (Tyr)	Frameshift Variant
CYP3A5 transcript variant 4	NM_001291829.2:c.696dup	T [ACC] > Y [TACC]	Coding Sequence Variant
cytochrome P450 3A5 isoform 3	NP_001278758.1:p.Thr233fs	T (Thr) > Y (Tyr)	Frameshift Variant
CYP3A5 transcript variant 5	NM_001291830.2:c.1005dup	T [ACC] > Y [TACC]	Coding Sequence Variant
cytochrome P450 3A5 isoform 4 precursor	NP_001278759.1:p.Thr336fs	T (Thr) > Y (Tyr)	Frameshift Variant
CYP3A5 transcript variant 3	NR_033807.3:n.2739dup	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.

Allele: dupA (allele ID: 3191617 )

ClinVar Accession	Disease Names	Clinical Significance
RCV003919760.1	CYP3A5-related disorder	Likely-Benign

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	A=	dupA
GRCh38.p14 chr 7	NC_000007.14:g.99652771=	NC_000007.14:g.99652771dup
GRCh37.p13 chr 7	NC_000007.13:g.99250394=	NC_000007.13:g.99250394dup
CYP3A5 RefSeqGene (LRG_1431)	NG_007938.2:g.32228=	NG_007938.2:g.32228dup
CYP3A5 transcript variant 1	NM_000777.5:c.1035=	NM_000777.5:c.1035dup
CYP3A5 transcript variant 1	NM_000777.4:c.1035=	NM_000777.4:c.1035dup
CYP3A5 transcript variant 1	NM_000777.3:c.1035=	NM_000777.3:c.1035dup
CYP3A5 transcript variant 3	NR_033807.3:n.2739=	NR_033807.3:n.2739dup
CYP3A5 transcript variant 3	NR_033807.2:n.2769=	NR_033807.2:n.2769dup
CYP3A5 transcript variant 3	NR_033807.1:n.2741=	NR_033807.1:n.2741dup
CYP3A5 transcript variant 4	NM_001291829.2:c.696=	NM_001291829.2:c.696dup
CYP3A5 transcript variant 4	NM_001291829.1:c.696=	NM_001291829.1:c.696dup
CYP3A5 transcript variant 5	NM_001291830.2:c.1005=	NM_001291830.2:c.1005dup
CYP3A5 transcript variant 5	NM_001291830.1:c.1005=	NM_001291830.1:c.1005dup
CYP3A5 transcript variant 5	NR_033809.1:n.1397=	NR_033809.1:n.1397dup
CYP3A5 transcript variant 4	NR_033808.1:n.1637=	NR_033808.1:n.1637dup
cytochrome P450 3A5 isoform 1	NP_000768.1:p.Pro345=	NP_000768.1:p.Thr346fs
cytochrome P450 3A5 isoform 3	NP_001278758.1:p.Pro232=	NP_001278758.1:p.Thr233fs
cytochrome P450 3A5 isoform 4 precursor	NP_001278759.1:p.Pro335=	NP_001278759.1:p.Thr336fs
ZSCAN25 transcript variant 7	NM_001350984.2:c.806-16324=	NM_001350984.2:c.806-16324dup
ZSCAN25 transcript variant 8	NM_001350985.2:c.806-16324=	NM_001350985.2:c.806-16324dup
ZSCAN25 transcript variant X5	XM_005250198.1:c.806-24433=	XM_005250198.1:c.806-24433dup
ZSCAN25 transcript variant X8	XM_011515909.3:c.806-16324=	XM_011515909.3:c.806-16324dup
ZSCAN25 transcript variant X9	XM_047420016.1:c.806-16324=	XM_047420016.1:c.806-16324dup
ZSCAN25 transcript variant X10	XM_047420017.1:c.806-16324=	XM_047420017.1:c.806-16324dup
ZSCAN25 transcript variant X13	XM_047420018.1:c.806-16324=	XM_047420018.1:c.806-16324dup
ZSCAN25 transcript variant X14	XM_047420019.1:c.806-16324=	XM_047420019.1:c.806-16324dup

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#.

49 SubSNP, 10 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	EGP_SNPS	ss60197514	Oct 18, 2006 (127)
2	PHARMGKB_PAAR-UCHI	ss69371769	May 17, 2007 (127)
3	PHARMGKB_AB_DME	ss84155138	Dec 14, 2007 (130)
4	1000GENOMES	ss327318357	May 09, 2011 (135)
5	1000GENOMES	ss499957610	May 04, 2012 (137)
6	LUNTER	ss551970835	Apr 25, 2013 (138)
7	TISHKOFF	ss559282266	Apr 25, 2013 (138)
8	ILLUMINA	ss780680232	Aug 21, 2014 (142)
9	ILLUMINA	ss783353504	Aug 21, 2014 (142)
10	1000GENOMES	ss1377429656	Aug 21, 2014 (142)
11	EVA_UK10K_ALSPAC	ss1705749345	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1705749533	Apr 01, 2015 (144)
13	EVA_EXAC	ss1711862931	Apr 01, 2015 (144)
14	ILLUMINA	ss1752702656	Sep 08, 2015 (146)
15	HAMMER_LAB	ss1805132724	Sep 08, 2015 (146)
16	ILLUMINA	ss1946215391	Feb 12, 2016 (147)
17	ILLUMINA	ss2136247348	Dec 20, 2016 (150)
18	ILLUMINA	ss2136304412	Dec 20, 2016 (150)
19	ILLUMINA	ss2711117309	Nov 08, 2017 (151)
20	GNOMAD	ss2747871675	Nov 08, 2017 (151)
21	GNOMAD	ss2856764331	Nov 08, 2017 (151)
22	AFFY	ss2985413713	Nov 08, 2017 (151)
23	AFFY	ss2986045844	Nov 08, 2017 (151)
24	ILLUMINA	ss3022760733	Nov 08, 2017 (151)
25	CSIRBIOHTS	ss3029637918	Nov 08, 2017 (151)
26	ILLUMINA	ss3629872994	Oct 12, 2018 (152)
27	ILLUMINA	ss3635132954	Oct 12, 2018 (152)
28	ILLUMINA	ss3640840246	Oct 12, 2018 (152)
29	ILLUMINA	ss3644948494	Oct 12, 2018 (152)
30	ILLUMINA	ss3653294755	Oct 12, 2018 (152)
31	ILLUMINA	ss3654175324	Oct 12, 2018 (152)
32	ILLUMINA	ss3726465294	Jul 13, 2019 (153)
33	ILLUMINA	ss3744570554	Jul 13, 2019 (153)
34	ILLUMINA	ss3745432982	Jul 13, 2019 (153)
35	ILLUMINA	ss3772925833	Jul 13, 2019 (153)
36	KHV_HUMAN_GENOMES	ss3810096557	Jul 13, 2019 (153)
37	EVA	ss3824296349	Apr 26, 2020 (154)
38	EVA	ss3986390902	Apr 26, 2021 (155)
39	TOPMED	ss4756560892	Apr 26, 2021 (155)
40	EVA	ss6404379015	Oct 31, 2024 (157)
41	GNOMAD	ss6431765870	Oct 31, 2024 (157)
42	GNOMAD	ss6763860870	Oct 31, 2024 (157)
43	1000G_HIGH_COVERAGE	ss8274031673	Oct 31, 2024 (157)
44	HUGCELL_USP	ss8471002858	Oct 31, 2024 (157)
45	EVA	ss8512473857	Oct 31, 2024 (157)
46	1000G_HIGH_COVERAGE	ss8562812543	Oct 31, 2024 (157)
47	SANFORD_IMAGENETICS	ss8624670289	Oct 31, 2024 (157)
48	SANFORD_IMAGENETICS	ss8643587103	Oct 31, 2024 (157)
49	EVA	ss8972771558	Oct 31, 2024 (157)
50	1000Genomes	NC_000007.13 - 99250394	Oct 12, 2018 (152)
51	1000Genomes_30X	NC_000007.14 - 99652771	Oct 31, 2024 (157)
52	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 99250394	Oct 12, 2018 (152)
53	ExAC	NC_000007.13 - 99250394	Oct 12, 2018 (152)
54	gnomAD v4 - Exomes	NC_000007.14 - 99652771	Oct 31, 2024 (157)
55	gnomAD v4 - Genomes	NC_000007.14 - 99652771	Oct 31, 2024 (157)
56	GO Exome Sequencing Project	NC_000007.13 - 99250394	Oct 12, 2018 (152)
57	TopMed	NC_000007.14 - 99652771	Apr 26, 2021 (155)
58	UK 10K study - Twins	NC_000007.13 - 99250394	Oct 12, 2018 (152)
59	ALFA	NC_000007.14 - 99652771	Oct 31, 2024 (157)
60	ClinVar	RCV003919760.1	Oct 31, 2024 (157)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs57622522	May 23, 2008 (130)
rs146933882	Sep 17, 2011 (135)
rs371634789	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss327318357, ss551970835	NC_000007.12:99088329::A	NC_000007.14:99652770:A:AA	(self)
38351472, 21340648, 8914635, 754293, 21340648, ss499957610, ss780680232, ss783353504, ss1377429656, ss1705749345, ss1705749533, ss1711862931, ss1752702656, ss1805132724, ss1946215391, ss2136247348, ss2136304412, ss2711117309, ss2747871675, ss2856764331, ss2985413713, ss2986045844, ss3022760733, ss3029637918, ss3629872994, ss3635132954, ss3640840246, ss3644948494, ss3653294755, ss3654175324, ss3744570554, ss3745432982, ss3772925833, ss3824296349, ss3986390902, ss8512473857, ss8624670289, ss8643587103, ss8972771558	NC_000007.13:99250393::A	NC_000007.14:99652770:A:AA	(self)
ss559282266	NC_000007.13:99250394::A	NC_000007.14:99652770:A:AA	(self)
50338478, 27080668, 290762756, 593938451, ss3726465294, ss3810096557, ss4756560892, ss6404379015, ss6431765870, ss6763860870, ss8274031673, ss8471002858, ss8562812543	NC_000007.14:99652770::A	NC_000007.14:99652770:A:AA	(self)
RCV003919760.1, 12978019525	NC_000007.14:99652770:A:AA	NC_000007.14:99652770:A:AA	(self)
ss60197514, ss69371769, ss84155138	NT_007933.15:37283236::A	NC_000007.14:99652770:A:AA	(self)

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

29 citations for rs41303343

PMID	Title	Author	Year	Journal
20386561	Intronic polymorphism in CYP3A4 affects hepatic expression and response to statin drugs.	Wang D et al.	2011	The pharmacogenomics journal
21806386	Pharmacogenetics of calcineurin inhibitors in Brazilian renal transplant patients.	Santoro A et al.	2011	Pharmacogenomics
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
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
24944790	Screening for 392 polymorphisms in 141 pharmacogenes.	Kim JY et al.	2014	Biomedical reports
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
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
30801552	Genetic Variants Associated With Immunosuppressant Pharmacokinetics and Adverse Effects in the DeKAF Genomics Genome-wide Association Studies.	Oetting WS et al.	2019	Transplantation
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
33829662	Genetic variants related to successful migraine prophylaxis with verapamil.	Cutrer FM et al.	2021	Molecular genetics & genomic medicine
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
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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
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

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs41303343