Name: rs3842
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

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

Reference SNP (rs) Report

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

rs3842

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:87504050 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.159232 (42147/264690, TOPMED)
C=0.144412 (24088/166800, ALFA)
C=0.155682 (21811/140100, GnomAD) (+ 21 more)
C=0.17676 (13911/78700, PAGE_STUDY)
C=0.27985 (7908/28258, 14KJPN)
C=0.27885 (4673/16758, 8.3KJPN)
C=0.1854 (1187/6404, 1000G_30x)
C=0.1879 (941/5008, 1000G)
C=0.1127 (505/4480, Estonian)
C=0.1323 (510/3854, ALSPAC)
C=0.1440 (534/3708, TWINSUK)
C=0.1475 (481/3262, PRJNA289433)
C=0.3061 (897/2930, KOREAN)
C=0.2125 (400/1882, HapMap)
C=0.2948 (540/1832, Korea1K)
C=0.134 (134/998, GoNL)
C=0.305 (239/784, PRJEB37584)
C=0.177 (106/600, NorthernSweden)
C=0.150 (74/494, PharmGKB)
C=0.213 (46/216, Qatari)
C=0.321 (68/212, Vietnamese)
T=0.428 (83/194, SGDP_PRJ)
C=0.12 (5/40, GENOME_DK)
T=0.42 (5/12, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ABCB1 : 3 Prime UTR Variant
Publications: 21 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	171930	T=0.855674	C=0.144326	0.731984	0.020636	0.24738	0
European	Sub	152074	T=0.860436	C=0.139564	0.740127	0.019254	0.24062	0
African	Sub	9518	T=0.8296	C=0.1704	0.685648	0.026476	0.287876	1
African Others	Sub	362	T=0.793	C=0.207	0.629834	0.044199	0.325967	0
African American	Sub	9156	T=0.8310	C=0.1690	0.687855	0.025775	0.28637	1
Asian	Sub	3374	T=0.7469	C=0.2531	0.556609	0.062833	0.380557	0
East Asian	Sub	2736	T=0.7295	C=0.2705	0.527778	0.068713	0.403509	0
Other Asian	Sub	638	T=0.821	C=0.179	0.680251	0.037618	0.282132	0
Latin American 1	Sub	532	T=0.870	C=0.130	0.755639	0.015038	0.229323	0
Latin American 2	Sub	1522	T=0.8528	C=0.1472	0.724047	0.018397	0.257556	0
South Asian	Sub	302	T=0.858	C=0.142	0.741722	0.02649	0.231788	0
Other	Sub	4608	T=0.8312	C=0.1688	0.686632	0.024306	0.289062	1

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.840768	C=0.159232
Allele Frequency Aggregator	Total	Global	166800	T=0.855588	C=0.144412
Allele Frequency Aggregator	European	Sub	148904	T=0.860467	C=0.139533
Allele Frequency Aggregator	African	Sub	8376	T=0.8251	C=0.1749
Allele Frequency Aggregator	Other	Sub	3790	T=0.8269	C=0.1731
Allele Frequency Aggregator	Asian	Sub	3374	T=0.7469	C=0.2531
Allele Frequency Aggregator	Latin American 2	Sub	1522	T=0.8528	C=0.1472
Allele Frequency Aggregator	Latin American 1	Sub	532	T=0.870	C=0.130
Allele Frequency Aggregator	South Asian	Sub	302	T=0.858	C=0.142
gnomAD - Genomes	Global	Study-wide	140100	T=0.844318	C=0.155682
gnomAD - Genomes	European	Sub	75920	T=0.85788	C=0.14212
gnomAD - Genomes	African	Sub	41922	T=0.82436	C=0.17564
gnomAD - Genomes	American	Sub	13662	T=0.86393	C=0.13607
gnomAD - Genomes	Ashkenazi Jewish	Sub	3314	T=0.8096	C=0.1904
gnomAD - Genomes	East Asian	Sub	3128	T=0.7295	C=0.2705
gnomAD - Genomes	Other	Sub	2154	T=0.8505	C=0.1495
The PAGE Study	Global	Study-wide	78700	T=0.82324	C=0.17676
The PAGE Study	AfricanAmerican	Sub	32516	T=0.82464	C=0.17536
The PAGE Study	Mexican	Sub	10810	T=0.85125	C=0.14875
The PAGE Study	Asian	Sub	8318	T=0.7285	C=0.2715
The PAGE Study	PuertoRican	Sub	7918	T=0.8673	C=0.1327
The PAGE Study	NativeHawaiian	Sub	4534	T=0.7417	C=0.2583
The PAGE Study	Cuban	Sub	4230	T=0.8700	C=0.1300
The PAGE Study	Dominican	Sub	3828	T=0.8375	C=0.1625
The PAGE Study	CentralAmerican	Sub	2448	T=0.8595	C=0.1405
The PAGE Study	SouthAmerican	Sub	1982	T=0.8668	C=0.1332
The PAGE Study	NativeAmerican	Sub	1260	T=0.8492	C=0.1508
The PAGE Study	SouthAsian	Sub	856	T=0.824	C=0.176
14KJPN	JAPANESE	Study-wide	28258	T=0.72015	C=0.27985
8.3KJPN	JAPANESE	Study-wide	16758	T=0.72115	C=0.27885
1000Genomes_30x	Global	Study-wide	6404	T=0.8146	C=0.1854
1000Genomes_30x	African	Sub	1786	T=0.8449	C=0.1551
1000Genomes_30x	Europe	Sub	1266	T=0.8586	C=0.1414
1000Genomes_30x	South Asian	Sub	1202	T=0.8161	C=0.1839
1000Genomes_30x	East Asian	Sub	1170	T=0.6974	C=0.3026
1000Genomes_30x	American	Sub	980	T=0.841	C=0.159
1000Genomes	Global	Study-wide	5008	T=0.8121	C=0.1879
1000Genomes	African	Sub	1322	T=0.8359	C=0.1641
1000Genomes	East Asian	Sub	1008	T=0.7044	C=0.2956
1000Genomes	Europe	Sub	1006	T=0.8608	C=0.1392
1000Genomes	South Asian	Sub	978	T=0.821	C=0.179
1000Genomes	American	Sub	694	T=0.840	C=0.160
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8873	C=0.1127
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8677	C=0.1323
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8560	C=0.1440
MxGDAR/Encodat-PGx	Global	Study-wide	3262	T=0.8525	C=0.1475
MxGDAR/Encodat-PGx	MxGDAR	Sub	3262	T=0.8525	C=0.1475
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.6939	C=0.3061
HapMap	Global	Study-wide	1882	T=0.7875	C=0.2125
HapMap	American	Sub	764	T=0.809	C=0.191
HapMap	African	Sub	690	T=0.784	C=0.216
HapMap	Asian	Sub	254	T=0.681	C=0.319
HapMap	Europe	Sub	174	T=0.862	C=0.138
Korean Genome Project	KOREAN	Study-wide	1832	T=0.7052	C=0.2948
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.866	C=0.134
CNV burdens in cranial meningiomas	Global	Study-wide	784	T=0.695	C=0.305
CNV burdens in cranial meningiomas	CRM	Sub	784	T=0.695	C=0.305
Northern Sweden	ACPOP	Study-wide	600	T=0.823	C=0.177
PharmGKB Aggregated	Global	Study-wide	494	T=0.850	C=0.150
PharmGKB Aggregated	PA152526648	Sub	494	T=0.850	C=0.150
Qatari	Global	Study-wide	216	T=0.787	C=0.213
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.679	C=0.321
SGDP_PRJ	Global	Study-wide	194	T=0.428	C=0.572
The Danish reference pan genome	Danish	Study-wide	40	T=0.88	C=0.12
Siberian	Global	Study-wide	12	T=0.42	C=0.58

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.87504050T>C
GRCh37.p13 chr 7	NC_000007.13:g.87133366T>C
ABCB1 RefSeqGene	NG_011513.1:g.214199A>G

Gene: ABCB1, ATP binding cassette subfamily B member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCB1 transcript variant 4	NM_001348946.2:c.*193=	N/A	3 Prime UTR Variant
ABCB1 transcript variant 2	NM_001348944.2:c.*193=	N/A	3 Prime UTR Variant
ABCB1 transcript variant 3	NM_000927.5:c.*193=	N/A	3 Prime UTR Variant
ABCB1 transcript variant 1	NM_001348945.2:c.*193=	N/A	3 Prime UTR 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: C (allele ID: 817135 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001029521.2	Tramadol response	Drug-Response

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

Placement	T=	C
GRCh38.p14 chr 7	NC_000007.14:g.87504050=	NC_000007.14:g.87504050T>C
GRCh37.p13 chr 7	NC_000007.13:g.87133366=	NC_000007.13:g.87133366T>C
ABCB1 RefSeqGene	NG_011513.1:g.214199=	NG_011513.1:g.214199A>G
ABCB1 transcript variant 3	NM_000927.5:c.*193=	NM_000927.5:c.*193A>G
ABCB1 transcript variant 3	NM_000927.4:c.*193=	NM_000927.4:c.*193A>G
ABCB1 transcript variant 1	NM_001348945.2:c.*193=	NM_001348945.2:c.*193A>G
ABCB1 transcript variant 1	NM_001348945.1:c.*193=	NM_001348945.1:c.*193A>G
ABCB1 transcript variant 2	NM_001348944.2:c.*193=	NM_001348944.2:c.*193A>G
ABCB1 transcript variant 2	NM_001348944.1:c.*193=	NM_001348944.1:c.*193A>G
ABCB1 transcript variant 4	NM_001348946.2:c.*193=	NM_001348946.2:c.*193A>G
ABCB1 transcript variant 4	NM_001348946.1:c.*193=	NM_001348946.1:c.*193A>G

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, 24 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF	ss3879	Sep 19, 2000 (36)
2	CGAP-GAI	ss4321432	Jan 04, 2002 (102)
3	YUSUKE	ss4933827	Aug 28, 2002 (108)
4	BGI	ss5591035	Dec 12, 2002 (110)
5	RIKENSNPRC	ss5602939	Dec 12, 2002 (110)
6	EGP_SNPS	ss35072318	May 24, 2005 (125)
7	SI_EXO	ss52078539	Oct 16, 2006 (127)
8	ILLUMINA	ss75139448	Dec 07, 2007 (129)
9	CGM_KYOTO	ss76874857	Dec 07, 2007 (129)
10	HGSV	ss78348566	Dec 07, 2007 (129)
11	CCHMC-CAE-PGCORE	ss79313684	Dec 15, 2007 (130)
12	PHARMGKB_PMT	ss84137810	Dec 15, 2007 (130)
13	HGSV	ss85506811	Dec 15, 2007 (130)
14	CNG	ss86353223	Mar 23, 2008 (129)
15	BGI	ss104448225	Dec 01, 2009 (131)
16	1000GENOMES	ss112311435	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss116181175	Feb 14, 2009 (130)
18	KRIBB_YJKIM	ss119337336	Dec 01, 2009 (131)
19	ILLUMINA	ss154274058	Dec 01, 2009 (131)
20	ILLUMINA	ss159450780	Dec 01, 2009 (131)
21	ILLUMINA	ss173658757	Jul 04, 2010 (132)
22	BUSHMAN	ss203606850	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss208314577	Jul 04, 2010 (132)
24	1000GENOMES	ss223187895	Jul 14, 2010 (132)
25	1000GENOMES	ss234063902	Jul 15, 2010 (132)
26	1000GENOMES	ss241001904	Jul 15, 2010 (132)
27	ILLUMINA	ss244297915	Jul 04, 2010 (132)
28	GMI	ss279425967	May 04, 2012 (137)
29	GSK-GENETICS	ss491275539	May 04, 2012 (137)
30	ILLUMINA	ss535389114	Sep 08, 2015 (146)
31	TISHKOFF	ss560134704	Apr 25, 2013 (138)
32	SSMP	ss654533747	Apr 25, 2013 (138)
33	ILLUMINA	ss832962329	Jul 13, 2019 (153)
34	EVA-GONL	ss984506847	Aug 21, 2014 (142)
35	PMT	ss1026802854	Apr 01, 2015 (144)
36	JMKIDD_LAB	ss1074771483	Aug 21, 2014 (142)
37	1000GENOMES	ss1326013809	Aug 21, 2014 (142)
38	DDI	ss1431200579	Apr 01, 2015 (144)
39	EVA_GENOME_DK	ss1582294072	Apr 01, 2015 (144)
40	EVA_DECODE	ss1594082711	Apr 01, 2015 (144)
41	EVA_UK10K_ALSPAC	ss1618630323	Apr 01, 2015 (144)
42	EVA_UK10K_TWINSUK	ss1661624356	Apr 01, 2015 (144)
43	EVA_SVP	ss1712968760	Apr 01, 2015 (144)
44	WEILL_CORNELL_DGM	ss1927769994	Feb 12, 2016 (147)
45	ILLUMINA	ss1946213119	Feb 12, 2016 (147)
46	ILLUMINA	ss1959029194	Feb 12, 2016 (147)
47	GENOMED	ss1970753034	Jul 19, 2016 (147)
48	JJLAB	ss2024567414	Sep 14, 2016 (149)
49	ILLUMINA	ss2095201407	Dec 20, 2016 (150)
50	USC_VALOUEV	ss2152788101	Dec 20, 2016 (150)
51	HUMAN_LONGEVITY	ss2295530640	Dec 20, 2016 (150)
52	SYSTEMSBIOZJU	ss2626775168	Nov 08, 2017 (151)
53	ILLUMINA	ss2634628830	Nov 08, 2017 (151)
54	ILLUMINA	ss2634628831	Nov 08, 2017 (151)
55	GRF	ss2708492769	Nov 08, 2017 (151)
56	ILLUMINA	ss2711114691	Nov 08, 2017 (151)
57	GNOMAD	ss2855814587	Nov 08, 2017 (151)
58	AFFY	ss2985411517	Nov 08, 2017 (151)
59	AFFY	ss2986042866	Nov 08, 2017 (151)
60	SWEGEN	ss3001577445	Nov 08, 2017 (151)
61	ILLUMINA	ss3022753879	Nov 08, 2017 (151)
62	BIOINF_KMB_FNS_UNIBA	ss3026077170	Nov 08, 2017 (151)
63	CSHL	ss3347717345	Nov 08, 2017 (151)
64	ILLUMINA	ss3625932185	Oct 12, 2018 (152)
65	ILLUMINA	ss3625932186	Oct 12, 2018 (152)
66	ILLUMINA	ss3629856393	Oct 12, 2018 (152)
67	ILLUMINA	ss3638708178	Oct 12, 2018 (152)
68	ILLUMINA	ss3643643265	Oct 12, 2018 (152)
69	ILLUMINA	ss3644946221	Oct 12, 2018 (152)
70	OMUKHERJEE_ADBS	ss3646358859	Oct 12, 2018 (152)
71	ILLUMINA	ss3653287547	Oct 12, 2018 (152)
72	ILLUMINA	ss3653287548	Oct 12, 2018 (152)
73	ILLUMINA	ss3654172881	Oct 12, 2018 (152)
74	EGCUT_WGS	ss3669330926	Jul 13, 2019 (153)
75	EVA_DECODE	ss3720145946	Jul 13, 2019 (153)
76	ILLUMINA	ss3726459109	Jul 13, 2019 (153)
77	ACPOP	ss3734834294	Jul 13, 2019 (153)
78	ILLUMINA	ss3744292461	Jul 13, 2019 (153)
79	EVA	ss3766828398	Jul 13, 2019 (153)
80	PAGE_CC	ss3771381299	Jul 13, 2019 (153)
81	PACBIO	ss3785884313	Jul 13, 2019 (153)
82	PACBIO	ss3791176513	Jul 13, 2019 (153)
83	PACBIO	ss3796056464	Jul 13, 2019 (153)
84	KHV_HUMAN_GENOMES	ss3810001921	Jul 13, 2019 (153)
85	EVA	ss3825722587	Apr 26, 2020 (154)
86	EVA	ss3838840833	Apr 26, 2020 (154)
87	EVA	ss3844295627	Apr 26, 2020 (154)
88	SGDP_PRJ	ss3867816186	Apr 26, 2020 (154)
89	KRGDB	ss3915076568	Apr 26, 2020 (154)
90	KOGIC	ss3962028077	Apr 26, 2020 (154)
91	FSA-LAB	ss3984371694	Apr 26, 2021 (155)
92	EVA	ss3984448773	Apr 26, 2021 (155)
93	EVA	ss3984591222	Apr 26, 2021 (155)
94	EVA	ss3986040317	Apr 26, 2021 (155)
95	EVA	ss4017345471	Apr 26, 2021 (155)
96	TOPMED	ss4753633430	Apr 26, 2021 (155)
97	TOMMO_GENOMICS	ss5184286744	Apr 26, 2021 (155)
98	1000G_HIGH_COVERAGE	ss5273746563	Oct 13, 2022 (156)
99	HUGCELL_USP	ss5470745828	Oct 13, 2022 (156)
100	1000G_HIGH_COVERAGE	ss5562377279	Oct 13, 2022 (156)
101	SANFORD_IMAGENETICS	ss5624668248	Oct 13, 2022 (156)
102	SANFORD_IMAGENETICS	ss5643428418	Oct 13, 2022 (156)
103	TOMMO_GENOMICS	ss5724884602	Oct 13, 2022 (156)
104	EVA	ss5800140179	Oct 13, 2022 (156)
105	YY_MCH	ss5808856614	Oct 13, 2022 (156)
106	EVA	ss5823147584	Oct 13, 2022 (156)
107	EVA	ss5847321704	Oct 13, 2022 (156)
108	EVA	ss5848143862	Oct 13, 2022 (156)
109	EVA	ss5855990721	Oct 13, 2022 (156)
110	EVA	ss5859762820	Oct 13, 2022 (156)
111	EVA	ss5972605063	Oct 13, 2022 (156)
112	EVA	ss5979832647	Oct 13, 2022 (156)
113	1000Genomes	NC_000007.13 - 87133366	Oct 12, 2018 (152)
114	1000Genomes_30x	NC_000007.14 - 87504050	Oct 13, 2022 (156)
115	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 87133366	Oct 12, 2018 (152)
116	Genetic variation in the Estonian population	NC_000007.13 - 87133366	Oct 12, 2018 (152)
117	The Danish reference pan genome	NC_000007.13 - 87133366	Apr 26, 2020 (154)
118	gnomAD - Genomes	NC_000007.14 - 87504050	Apr 26, 2021 (155)
119	Genome of the Netherlands Release 5	NC_000007.13 - 87133366	Apr 26, 2020 (154)
120	HapMap	NC_000007.14 - 87504050	Apr 26, 2020 (154)
121	KOREAN population from KRGDB	NC_000007.13 - 87133366	Apr 26, 2020 (154)
122	Korean Genome Project	NC_000007.14 - 87504050	Apr 26, 2020 (154)
123	Northern Sweden	NC_000007.13 - 87133366	Jul 13, 2019 (153)
124	The PAGE Study	NC_000007.14 - 87504050	Jul 13, 2019 (153)
125	CNV burdens in cranial meningiomas	NC_000007.13 - 87133366	Apr 26, 2021 (155)
126	MxGDAR/Encodat-PGx	NC_000007.13 - 87133366	Apr 26, 2021 (155)
127	PharmGKB Aggregated	NC_000007.14 - 87504050	Apr 26, 2020 (154)
128	Qatari	NC_000007.13 - 87133366	Apr 26, 2020 (154)
129	SGDP_PRJ	NC_000007.13 - 87133366	Apr 26, 2020 (154)
130	Siberian	NC_000007.13 - 87133366	Apr 26, 2020 (154)
131	8.3KJPN	NC_000007.13 - 87133366	Apr 26, 2021 (155)
132	14KJPN	NC_000007.14 - 87504050	Oct 13, 2022 (156)
133	TopMed	NC_000007.14 - 87504050	Apr 26, 2021 (155)
134	UK 10K study - Twins	NC_000007.13 - 87133366	Oct 12, 2018 (152)
135	A Vietnamese Genetic Variation Database	NC_000007.13 - 87133366	Jul 13, 2019 (153)
136	ALFA	NC_000007.14 - 87504050	Apr 26, 2021 (155)
137	ClinVar	RCV001029521.2	Oct 13, 2022 (156)

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)
rs3747805	Oct 08, 2002 (108)
rs60395104	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78348566, ss85506811	NC_000007.11:86778016:T:C	NC_000007.14:87504049:T:C	(self)
ss112311435, ss116181175, ss203606850, ss208314577, ss279425967, ss491275539, ss1594082711, ss1712968760, ss3643643265	NC_000007.12:86971301:T:C	NC_000007.14:87504049:T:C	(self)
38015751, 21154406, 15069174, 8459011, 9446104, 22253962, 8119159, 140647, 1774, 9811924, 19833166, 5304455, 42256051, 21154406, 4718494, ss223187895, ss234063902, ss241001904, ss535389114, ss560134704, ss654533747, ss832962329, ss984506847, ss1074771483, ss1326013809, ss1431200579, ss1582294072, ss1618630323, ss1661624356, ss1927769994, ss1946213119, ss1959029194, ss1970753034, ss2024567414, ss2095201407, ss2152788101, ss2626775168, ss2634628830, ss2634628831, ss2708492769, ss2711114691, ss2855814587, ss2985411517, ss2986042866, ss3001577445, ss3022753879, ss3347717345, ss3625932185, ss3625932186, ss3629856393, ss3638708178, ss3644946221, ss3646358859, ss3653287547, ss3653287548, ss3654172881, ss3669330926, ss3734834294, ss3744292461, ss3766828398, ss3785884313, ss3791176513, ss3796056464, ss3825722587, ss3838840833, ss3867816186, ss3915076568, ss3984371694, ss3984448773, ss3984591222, ss3986040317, ss4017345471, ss5184286744, ss5624668248, ss5643428418, ss5800140179, ss5823147584, ss5847321704, ss5848143862, ss5972605063, ss5979832647	NC_000007.13:87133365:T:C	NC_000007.14:87504049:T:C	(self)
RCV001029521.2, 49903214, 268201285, 3438411, 18406078, 602768, 11484, 58721706, 591010989, 10719653898, ss2295530640, ss3026077170, ss3720145946, ss3726459109, ss3771381299, ss3810001921, ss3844295627, ss3962028077, ss4753633430, ss5273746563, ss5470745828, ss5562377279, ss5724884602, ss5808856614, ss5855990721, ss5859762820	NC_000007.14:87504049:T:C	NC_000007.14:87504049:T:C	(self)
ss52078539	NT_007933.14:12367641:T:C	NC_000007.14:87504049:T:C	(self)
ss3879, ss4321432, ss4933827, ss5591035, ss5602939, ss35072318, ss75139448, ss76874857, ss79313684, ss84137810, ss86353223, ss104448225, ss119337336, ss154274058, ss159450780, ss173658757, ss244297915	NT_007933.15:25166208:T:C	NC_000007.14:87504049:T:C	(self)
ss1026802854	NT_007933.16:24997270:T:C	NC_000007.14:87504049:T:C	(self)

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

21 citations for rs3842

PMID	Title	Author	Year	Journal
17267408	Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.	Milani L et al.	2007	Nucleic acids research
19107762	Genetic susceptibility of lung cancer associated with common variants in the 3' untranslated regions of the adenosine triphosphate-binding cassette B1 (ABCB1) and ABCC1 candidate transporter genes for carcinogen export.	Wang H et al.	2009	Cancer
19844206	Sequence variations of ABCB1, SLC6A2, SLC6A3, SLC6A4, CREB1, CRHR1 and NTRK2: association with major depression and antidepressant response in Mexican-Americans.	Dong C et al.	2009	Molecular psychiatry
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
21709081	The SLCO1B1 rs4149032 polymorphism is highly prevalent in South Africans and is associated with reduced rifampin concentrations: dosing implications.	Chigutsa E et al.	2011	Antimicrobial agents and chemotherapy
23050008	Gene-wide characterization of common quantitative trait loci for ABCB1 mRNA expression in normal liver tissues in the Chinese population.	Shou W et al.	2012	PloS one
23133441	ABCB1 4036A>G and 1236C>T Polymorphisms Affect Plasma Efavirenz Levels in South African HIV/AIDS Patients.	Swart M et al.	2012	Frontiers in genetics
23319877	Association between ABCB1 Polymorphisms and Ischemic Stroke in Korean Population.	Kim YO et al.	2012	Experimental neurobiology
23687222	Clinical and genetic determinants of plasma nevirapine exposure following an intrapartum dose to prevent mother-to-child HIV transmission.	Vardhanabhuti S et al.	2013	The Journal of infectious diseases
23861838	Importance of ethnicity, CYP2B6 and ABCB1 genotype for efavirenz pharmacokinetics and treatment outcomes: a parallel-group prospective cohort study in two sub-Saharan Africa populations.	Ngaimisi E et al.	2013	PloS one
23996099	ABCB1 and ABCC1 variants associated with virological failure of first-line protease inhibitors antiretroviral regimens in Northeast Brazil patients.	Coelho AV et al.	2013	Journal of clinical pharmacology
24122874	Interindividual variability in hepatic organic anion-transporting polypeptides and P-glycoprotein (ABCB1) protein expression: quantification by liquid chromatography tandem mass spectroscopy and influence of genotype, age, and sex.	Prasad B et al.	2014	Drug metabolism and disposition
24212786	Molecular epidemiology of female lung cancer.	Yim SH et al.	2011	Cancers
24909419	A 30-years review on pharmacokinetics of antibiotics: is the right time for pharmacogenetics?	Baietto L et al.	2014	Current drug metabolism
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
28858994	High plasma concentrations of dolutegravir in patients with ABCG2 genetic variants.	Tsuchiya K et al.	2017	Pharmacogenetics and genomics
31139078	CYP2J2(∗)7 Genotype Predicts Risk of Chemotherapy-Induced Hematologic Toxicity and Reduced Relative Dose Intensity in Ethiopian Breast Cancer Patients.	Ahmed JH et al.	2019	Frontiers in pharmacology
34522797	The effect of CHRNA3 rs1051730 C>T and ABCB1 rs3842 A>G polymorphisms on non-small cell lung cancer and nicotine dependence in Iranian population.	Veiskarami P et al.	2021	Heliyon
34945777	Predictors of Efavirenz Plasma Exposure, Auto-Induction Profile, and Effect of Pharmacogenetic Variations among HIV-Infected Children in Ethiopia: A Prospective Cohort Study.	Chala A et al.	2021	Journal of personalized medicine
35514050	Pharmacogenetic predictors of variability in efavirenz pharmacokinetics in an admixed Brazilian HIV cohort.	Ximenez JP et al.	2022	British journal of clinical pharmacology

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

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

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Reference SNP (rs) Report

rs3842