Name: rs2235040
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.

rs2235040

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:87536434 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.130277 (34483/264690, TOPMED)
T=0.117340 (29470/251150, GnomAD_exome)
T=0.131926 (28829/218524, ALFA) (+ 26 more)
T=0.125516 (17582/140078, GnomAD)
T=0.118611 (14360/121068, ExAC)
T=0.12787 (10064/78702, PAGE_STUDY)
T=0.05758 (1627/28258, 14KJPN)
T=0.05657 (948/16758, 8.3KJPN)
T=0.13947 (1814/13006, GO-ESP)
T=0.1458 (934/6404, 1000G_30x)
T=0.1396 (699/5008, 1000G)
T=0.0862 (386/4480, Estonian)
T=0.1380 (532/3854, ALSPAC)
T=0.1321 (490/3708, TWINSUK)
T=0.0379 (111/2930, KOREAN)
T=0.1626 (307/1888, HapMap)
T=0.0409 (75/1832, Korea1K)
T=0.128 (128/998, GoNL)
T=0.120 (106/880, PharmGKB)
T=0.077 (48/626, Chileans)
T=0.092 (56/612, Vietnamese)
T=0.093 (56/600, NorthernSweden)
T=0.182 (97/534, MGP)
T=0.069 (21/304, FINRISK)
T=0.102 (22/216, Qatari)
C=0.480 (49/102, SGDP_PRJ)
T=0.12 (5/40, GENOME_DK)
C=0.5 (3/6, Siberian)
T=0.5 (3/6, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ABCB1 : Intron Variant
Publications: 17 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	218618	C=0.868080	T=0.131920	0.753561	0.0174	0.229039	0
European	Sub	186460	C=0.868422	T=0.131578	0.753867	0.017022	0.229111	0
African	Sub	11416	C=0.85074	T=0.14926	0.723896	0.022425	0.253679	0
African Others	Sub	364	C=0.835	T=0.165	0.681319	0.010989	0.307692	2
African American	Sub	11052	C=0.85125	T=0.14875	0.725299	0.022801	0.2519	0
Asian	Sub	834	C=0.923	T=0.077	0.851319	0.004796	0.143885	0
East Asian	Sub	626	C=0.936	T=0.064	0.875399	0.003195	0.121406	0
Other Asian	Sub	208	C=0.885	T=0.115	0.778846	0.009615	0.211538	0
Latin American 1	Sub	878	C=0.884	T=0.116	0.785877	0.018223	0.1959	1
Latin American 2	Sub	4064	C=0.9021	T=0.0979	0.815453	0.011319	0.173228	0
South Asian	Sub	5060	C=0.8547	T=0.1453	0.732411	0.022925	0.244664	0
Other	Sub	9906	C=0.8685	T=0.1315	0.756309	0.019382	0.224308	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.869723	T=0.130277
gnomAD - Exomes	Global	Study-wide	251150	C=0.882660	T=0.117340
gnomAD - Exomes	European	Sub	135188	C=0.886913	T=0.113087
gnomAD - Exomes	Asian	Sub	48978	C=0.88174	T=0.11826
gnomAD - Exomes	American	Sub	34536	C=0.89689	T=0.10311
gnomAD - Exomes	African	Sub	16252	C=0.84470	T=0.15530
gnomAD - Exomes	Ashkenazi Jewish	Sub	10072	C=0.84799	T=0.15201
gnomAD - Exomes	Other	Sub	6124	C=0.8736	T=0.1264
Allele Frequency Aggregator	Total	Global	218524	C=0.868074	T=0.131926
Allele Frequency Aggregator	European	Sub	186384	C=0.868417	T=0.131583
Allele Frequency Aggregator	African	Sub	11416	C=0.85074	T=0.14926
Allele Frequency Aggregator	Other	Sub	9888	C=0.8684	T=0.1316
Allele Frequency Aggregator	South Asian	Sub	5060	C=0.8547	T=0.1453
Allele Frequency Aggregator	Latin American 2	Sub	4064	C=0.9021	T=0.0979
Allele Frequency Aggregator	Latin American 1	Sub	878	C=0.884	T=0.116
Allele Frequency Aggregator	Asian	Sub	834	C=0.923	T=0.077
gnomAD - Genomes	Global	Study-wide	140078	C=0.874484	T=0.125516
gnomAD - Genomes	European	Sub	75886	C=0.88466	T=0.11534
gnomAD - Genomes	African	Sub	41962	C=0.84753	T=0.15247
gnomAD - Genomes	American	Sub	13636	C=0.89154	T=0.10846
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.8505	T=0.1495
gnomAD - Genomes	East Asian	Sub	3126	C=0.9389	T=0.0611
gnomAD - Genomes	Other	Sub	2144	C=0.8769	T=0.1231
ExAC	Global	Study-wide	121068	C=0.881389	T=0.118611
ExAC	Europe	Sub	73176	C=0.88409	T=0.11591
ExAC	Asian	Sub	25112	C=0.87978	T=0.12022
ExAC	American	Sub	11474	C=0.90239	T=0.09761
ExAC	African	Sub	10398	C=0.84295	T=0.15705
ExAC	Other	Sub	908	C=0.883	T=0.117
The PAGE Study	Global	Study-wide	78702	C=0.87213	T=0.12787
The PAGE Study	AfricanAmerican	Sub	32516	C=0.84863	T=0.15137
The PAGE Study	Mexican	Sub	10810	C=0.89010	T=0.10990
The PAGE Study	Asian	Sub	8318	C=0.9386	T=0.0614
The PAGE Study	PuertoRican	Sub	7918	C=0.8880	T=0.1120
The PAGE Study	NativeHawaiian	Sub	4534	C=0.8516	T=0.1484
The PAGE Study	Cuban	Sub	4230	C=0.8508	T=0.1492
The PAGE Study	Dominican	Sub	3828	C=0.8647	T=0.1353
The PAGE Study	CentralAmerican	Sub	2450	C=0.8886	T=0.1114
The PAGE Study	SouthAmerican	Sub	1982	C=0.9072	T=0.0928
The PAGE Study	NativeAmerican	Sub	1260	C=0.8786	T=0.1214
The PAGE Study	SouthAsian	Sub	856	C=0.855	T=0.145
14KJPN	JAPANESE	Study-wide	28258	C=0.94242	T=0.05758
8.3KJPN	JAPANESE	Study-wide	16758	C=0.94343	T=0.05657
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.86053	T=0.13947
GO Exome Sequencing Project	European American	Sub	8600	C=0.8670	T=0.1330
GO Exome Sequencing Project	African American	Sub	4406	C=0.8479	T=0.1521
1000Genomes_30x	Global	Study-wide	6404	C=0.8542	T=0.1458
1000Genomes_30x	African	Sub	1786	C=0.8063	T=0.1937
1000Genomes_30x	Europe	Sub	1266	C=0.8562	T=0.1438
1000Genomes_30x	South Asian	Sub	1202	C=0.8278	T=0.1722
1000Genomes_30x	East Asian	Sub	1170	C=0.9265	T=0.0735
1000Genomes_30x	American	Sub	980	C=0.885	T=0.115
1000Genomes	Global	Study-wide	5008	C=0.8604	T=0.1396
1000Genomes	African	Sub	1322	C=0.8177	T=0.1823
1000Genomes	East Asian	Sub	1008	C=0.9306	T=0.0694
1000Genomes	Europe	Sub	1006	C=0.8668	T=0.1332
1000Genomes	South Asian	Sub	978	C=0.820	T=0.180
1000Genomes	American	Sub	694	C=0.888	T=0.112
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9138	T=0.0862
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8620	T=0.1380
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8679	T=0.1321
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.9621	T=0.0379
HapMap	Global	Study-wide	1888	C=0.8374	T=0.1626
HapMap	American	Sub	770	C=0.866	T=0.134
HapMap	African	Sub	688	C=0.772	T=0.228
HapMap	Asian	Sub	254	C=0.917	T=0.083
HapMap	Europe	Sub	176	C=0.852	T=0.148
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9591	T=0.0409
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.872	T=0.128
PharmGKB Aggregated	Global	Study-wide	880	C=0.880	T=0.120
PharmGKB Aggregated	PA128379647	Sub	492	C=0.874	T=0.126
PharmGKB Aggregated	PA148793550	Sub	356	C=0.893	T=0.107
PharmGKB Aggregated	PA133884611	Sub	32	C=0.81	T=0.19
Chileans	Chilean	Study-wide	626	C=0.923	T=0.077
A Vietnamese Genetic Variation Database	Global	Study-wide	612	C=0.908	T=0.092
Northern Sweden	ACPOP	Study-wide	600	C=0.907	T=0.093
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.818	T=0.182
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.931	T=0.069
Qatari	Global	Study-wide	216	C=0.898	T=0.102
SGDP_PRJ	Global	Study-wide	102	C=0.480	T=0.520
The Danish reference pan genome	Danish	Study-wide	40	C=0.88	T=0.12
Siberian	Global	Study-wide	6	C=0.5	T=0.5

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.87536434C>A
GRCh38.p14 chr 7	NC_000007.14:g.87536434C>G
GRCh38.p14 chr 7	NC_000007.14:g.87536434C>T
GRCh37.p13 chr 7	NC_000007.13:g.87165750C>A
GRCh37.p13 chr 7	NC_000007.13:g.87165750C>G
GRCh37.p13 chr 7	NC_000007.13:g.87165750C>T
ABCB1 RefSeqGene	NG_011513.1:g.181815G>T
ABCB1 RefSeqGene	NG_011513.1:g.181815G>C
ABCB1 RefSeqGene	NG_011513.1:g.181815G>A

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

Molecule type	Change	Amino acid[Codon]	SO Term
ABCB1 transcript variant 3	NM_000927.5:c.2481+24G>T	N/A	Intron Variant
ABCB1 transcript variant 2	NM_001348944.2:c.2481+24G… NM_001348944.2:c.2481+24G>T	N/A	Intron Variant
ABCB1 transcript variant 1	NM_001348945.2:c.2691+24G… NM_001348945.2:c.2691+24G>T	N/A	Intron Variant
ABCB1 transcript variant 4	NM_001348946.2:c.2481+24G… NM_001348946.2:c.2481+24G>T	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

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

Placement	C=	A	G	T
GRCh38.p14 chr 7	NC_000007.14:g.87536434=	NC_000007.14:g.87536434C>A	NC_000007.14:g.87536434C>G	NC_000007.14:g.87536434C>T
GRCh37.p13 chr 7	NC_000007.13:g.87165750=	NC_000007.13:g.87165750C>A	NC_000007.13:g.87165750C>G	NC_000007.13:g.87165750C>T
ABCB1 RefSeqGene	NG_011513.1:g.181815=	NG_011513.1:g.181815G>T	NG_011513.1:g.181815G>C	NG_011513.1:g.181815G>A
ABCB1 transcript variant 3	NM_000927.4:c.2481+24=	NM_000927.4:c.2481+24G>T	NM_000927.4:c.2481+24G>C	NM_000927.4:c.2481+24G>A
ABCB1 transcript variant 3	NM_000927.5:c.2481+24=	NM_000927.5:c.2481+24G>T	NM_000927.5:c.2481+24G>C	NM_000927.5:c.2481+24G>A
ABCB1 transcript variant 2	NM_001348944.2:c.2481+24=	NM_001348944.2:c.2481+24G>T	NM_001348944.2:c.2481+24G>C	NM_001348944.2:c.2481+24G>A
ABCB1 transcript variant 1	NM_001348945.2:c.2691+24=	NM_001348945.2:c.2691+24G>T	NM_001348945.2:c.2691+24G>C	NM_001348945.2:c.2691+24G>A
ABCB1 transcript variant 4	NM_001348946.2:c.2481+24=	NM_001348946.2:c.2481+24G>T	NM_001348946.2:c.2481+24G>C	NM_001348946.2:c.2481+24G>A

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#.

126 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	OEFNER	ss3189031	Aug 15, 2001 (98)
2	RIKENSNPRC	ss5602915	Dec 12, 2002 (110)
3	WUGSC_SSAHASNP	ss14589258	Dec 05, 2003 (120)
4	EGP_SNPS	ss35072194	May 24, 2005 (125)
5	AFFY	ss66275871	Jul 04, 2010 (132)
6	PHARMGKB_PMT	ss69367500	May 16, 2007 (127)
7	PHARMGKB_PMT	ss69369678	May 16, 2007 (127)
8	ILLUMINA	ss75235527	Dec 07, 2007 (129)
9	AFFY	ss75927526	Dec 07, 2007 (129)
10	CCHMC-CAE-PGCORE	ss79313656	Dec 15, 2007 (130)
11	KRIBB_YJKIM	ss81731599	Dec 15, 2007 (130)
12	PHARMGKB_AB_DME	ss84163617	Dec 15, 2007 (130)
13	SNP500CANCER	ss105439490	Feb 05, 2009 (130)
14	1000GENOMES	ss112311708	Jan 25, 2009 (130)
15	1000GENOMES	ss114052543	Jan 25, 2009 (130)
16	ILLUMINA	ss153889028	Dec 01, 2009 (131)
17	ILLUMINA	ss159370382	Dec 01, 2009 (131)
18	ILLUMINA	ss160518518	Dec 01, 2009 (131)
19	COMPLETE_GENOMICS	ss164774659	Jul 04, 2010 (132)
20	AFFY	ss169234618	Jul 04, 2010 (132)
21	ILLUMINA	ss173198676	Jul 04, 2010 (132)
22	1000GENOMES	ss223188020	Jul 14, 2010 (132)
23	1000GENOMES	ss234063983	Jul 15, 2010 (132)
24	1000GENOMES	ss241001976	Jul 15, 2010 (132)
25	ILLUMINA	ss480474939	May 04, 2012 (137)
26	ILLUMINA	ss480489279	May 04, 2012 (137)
27	ILLUMINA	ss481288406	Sep 08, 2015 (146)
28	ILLUMINA	ss485034950	May 04, 2012 (137)
29	1000GENOMES	ss490948064	May 04, 2012 (137)
30	GSK-GENETICS	ss491275667	May 04, 2012 (137)
31	CLINSEQ_SNP	ss491909112	May 04, 2012 (137)
32	ILLUMINA	ss537058520	Sep 08, 2015 (146)
33	TISHKOFF	ss560134833	Apr 25, 2013 (138)
34	SSMP	ss654533872	Apr 25, 2013 (138)
35	NHLBI-ESP	ss712784070	Apr 25, 2013 (138)
36	ILLUMINA	ss778486571	Aug 21, 2014 (142)
37	ILLUMINA	ss782963719	Aug 21, 2014 (142)
38	ILLUMINA	ss783925665	Aug 21, 2014 (142)
39	ILLUMINA	ss832219964	Apr 01, 2015 (144)
40	ILLUMINA	ss832882209	Aug 21, 2014 (142)
41	ILLUMINA	ss833473039	Aug 21, 2014 (142)
42	ILLUMINA	ss833942513	Aug 21, 2014 (142)
43	JMKIDD_LAB	ss974464791	Aug 21, 2014 (142)
44	EVA-GONL	ss984507063	Aug 21, 2014 (142)
45	JMKIDD_LAB	ss1067489406	Aug 21, 2014 (142)
46	JMKIDD_LAB	ss1074771646	Aug 21, 2014 (142)
47	1000GENOMES	ss1326014669	Aug 21, 2014 (142)
48	EVA_GENOME_DK	ss1582294156	Apr 01, 2015 (144)
49	EVA_FINRISK	ss1584053265	Apr 01, 2015 (144)
50	EVA_DECODE	ss1594082951	Apr 01, 2015 (144)
51	EVA_UK10K_ALSPAC	ss1618630837	Apr 01, 2015 (144)
52	EVA_UK10K_TWINSUK	ss1661624870	Apr 01, 2015 (144)
53	EVA_EXAC	ss1688803234	Apr 01, 2015 (144)
54	EVA_MGP	ss1711170614	Apr 01, 2015 (144)
55	EVA_SVP	ss1712968796	Apr 01, 2015 (144)
56	ILLUMINA	ss1752698144	Sep 08, 2015 (146)
57	HAMMER_LAB	ss1805098566	Sep 08, 2015 (146)
58	WEILL_CORNELL_DGM	ss1927770201	Feb 12, 2016 (147)
59	ILLUMINA	ss1959029260	Feb 12, 2016 (147)
60	JJLAB	ss2024567517	Sep 14, 2016 (149)
61	USC_VALOUEV	ss2152788231	Dec 20, 2016 (150)
62	HUMAN_LONGEVITY	ss2295532419	Dec 20, 2016 (150)
63	ILLUMINA	ss2634628909	Nov 08, 2017 (151)
64	GRF	ss2708492909	Nov 08, 2017 (151)
65	GNOMAD	ss2736539108	Nov 08, 2017 (151)
66	GNOMAD	ss2747854133	Nov 08, 2017 (151)
67	GNOMAD	ss2855816995	Nov 08, 2017 (151)
68	AFFY	ss2985411540	Nov 08, 2017 (151)
69	AFFY	ss2986042882	Nov 08, 2017 (151)
70	SWEGEN	ss3001577757	Nov 08, 2017 (151)
71	ILLUMINA	ss3022753947	Nov 08, 2017 (151)
72	BIOINF_KMB_FNS_UNIBA	ss3026077214	Nov 08, 2017 (151)
73	CSIRBIOHTS	ss3029637890	Nov 08, 2017 (151)
74	CSHL	ss3347717415	Nov 08, 2017 (151)
75	ILLUMINA	ss3629856488	Oct 12, 2018 (152)
76	ILLUMINA	ss3632535097	Oct 12, 2018 (152)
77	ILLUMINA	ss3633469253	Oct 12, 2018 (152)
78	ILLUMINA	ss3634194486	Oct 12, 2018 (152)
79	ILLUMINA	ss3635128989	Oct 12, 2018 (152)
80	ILLUMINA	ss3635874146	Oct 12, 2018 (152)
81	ILLUMINA	ss3636862444	Oct 12, 2018 (152)
82	ILLUMINA	ss3637627139	Oct 12, 2018 (152)
83	ILLUMINA	ss3638708234	Oct 12, 2018 (152)
84	ILLUMINA	ss3640836281	Oct 12, 2018 (152)
85	ILLUMINA	ss3643643318	Oct 12, 2018 (152)
86	OMUKHERJEE_ADBS	ss3646358873	Oct 12, 2018 (152)
87	ILLUMINA	ss3653287619	Oct 12, 2018 (152)
88	ILLUMINA	ss3654172905	Oct 12, 2018 (152)
89	EGCUT_WGS	ss3669331250	Jul 13, 2019 (153)
90	EVA_DECODE	ss3720146351	Jul 13, 2019 (153)
91	ILLUMINA	ss3726459173	Jul 13, 2019 (153)
92	ACPOP	ss3734834470	Jul 13, 2019 (153)
93	ILLUMINA	ss3745429006	Jul 13, 2019 (153)
94	EVA	ss3766828651	Jul 13, 2019 (153)
95	PAGE_CC	ss3771381353	Jul 13, 2019 (153)
96	ILLUMINA	ss3772921909	Jul 13, 2019 (153)
97	KHV_HUMAN_GENOMES	ss3810002155	Jul 13, 2019 (153)
98	EVA	ss3824288342	Apr 26, 2020 (154)
99	EVA	ss3825722607	Apr 26, 2020 (154)
100	EVA	ss3830685665	Apr 26, 2020 (154)
101	EVA	ss3838840881	Apr 26, 2020 (154)
102	EVA	ss3844295672	Apr 26, 2020 (154)
103	SGDP_PRJ	ss3867816585	Apr 26, 2020 (154)
104	KRGDB	ss3915077093	Apr 26, 2020 (154)
105	KOGIC	ss3962028498	Apr 26, 2020 (154)
106	FSA-LAB	ss3984371718	Apr 26, 2021 (155)
107	EVA	ss3986387903	Apr 26, 2021 (155)
108	EVA	ss4017345516	Apr 26, 2021 (155)
109	TOPMED	ss4753641080	Apr 26, 2021 (155)
110	TOMMO_GENOMICS	ss5184287688	Apr 26, 2021 (155)
111	1000G_HIGH_COVERAGE	ss5273747294	Oct 13, 2022 (156)
112	EVA	ss5315261491	Oct 13, 2022 (156)
113	EVA	ss5374981768	Oct 13, 2022 (156)
114	HUGCELL_USP	ss5470746545	Oct 13, 2022 (156)
115	EVA	ss5509036650	Oct 13, 2022 (156)
116	1000G_HIGH_COVERAGE	ss5562378326	Oct 13, 2022 (156)
117	EVA	ss5624168320	Oct 13, 2022 (156)
118	SANFORD_IMAGENETICS	ss5643428798	Oct 13, 2022 (156)
119	TOMMO_GENOMICS	ss5724885808	Oct 13, 2022 (156)
120	EVA	ss5799729808	Oct 13, 2022 (156)
121	YY_MCH	ss5808856777	Oct 13, 2022 (156)
122	EVA	ss5823147885	Oct 13, 2022 (156)
123	EVA	ss5848685741	Oct 13, 2022 (156)
124	EVA	ss5855990799	Oct 13, 2022 (156)
125	EVA	ss5859763714	Oct 13, 2022 (156)
126	EVA	ss5972605520	Oct 13, 2022 (156)
127	1000Genomes	NC_000007.13 - 87165750	Oct 12, 2018 (152)
128	1000Genomes_30x	NC_000007.14 - 87536434	Oct 13, 2022 (156)
129	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 87165750	Oct 12, 2018 (152)
130	Chileans	NC_000007.13 - 87165750	Apr 26, 2020 (154)
131	Genetic variation in the Estonian population	NC_000007.13 - 87165750	Oct 12, 2018 (152)
132	ExAC	NC_000007.13 - 87165750	Oct 12, 2018 (152)
133	FINRISK	NC_000007.13 - 87165750	Apr 26, 2020 (154)
134	The Danish reference pan genome	NC_000007.13 - 87165750	Apr 26, 2020 (154)
135	gnomAD - Genomes	NC_000007.14 - 87536434	Apr 26, 2021 (155)
136	gnomAD - Exomes	NC_000007.13 - 87165750	Jul 13, 2019 (153)
137	GO Exome Sequencing Project	NC_000007.13 - 87165750	Oct 12, 2018 (152)
138	Genome of the Netherlands Release 5	NC_000007.13 - 87165750	Apr 26, 2020 (154)
139	HapMap	NC_000007.14 - 87536434	Apr 26, 2020 (154)
140	KOREAN population from KRGDB	NC_000007.13 - 87165750	Apr 26, 2020 (154)
141	Korean Genome Project	NC_000007.14 - 87536434	Apr 26, 2020 (154)
142	Medical Genome Project healthy controls from Spanish population	NC_000007.13 - 87165750	Apr 26, 2020 (154)
143	Northern Sweden	NC_000007.13 - 87165750	Jul 13, 2019 (153)
144	The PAGE Study	NC_000007.14 - 87536434	Jul 13, 2019 (153)
145	PharmGKB Aggregated	NC_000007.14 - 87536434	Apr 26, 2020 (154)
146	Qatari	NC_000007.13 - 87165750	Apr 26, 2020 (154)
147	SGDP_PRJ	NC_000007.13 - 87165750	Apr 26, 2020 (154)
148	Siberian	NC_000007.13 - 87165750	Apr 26, 2020 (154)
149	8.3KJPN	NC_000007.13 - 87165750	Apr 26, 2021 (155)
150	14KJPN	NC_000007.14 - 87536434	Oct 13, 2022 (156)
151	TopMed	NC_000007.14 - 87536434	Apr 26, 2021 (155)
152	UK 10K study - Twins	NC_000007.13 - 87165750	Oct 12, 2018 (152)
153	A Vietnamese Genetic Variation Database	NC_000007.13 - 87165750	Jul 13, 2019 (153)
154	ALFA	NC_000007.14 - 87536434	Apr 26, 2021 (155)

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

Associated ID	History Updated (Build)
rs10383656	Feb 27, 2004 (120)
rs59503449	May 25, 2008 (130)
rs60553448	Feb 27, 2009 (130)
rs386562018	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss66275871	NT_007933.16:25029654:C:A	NC_000007.14:87536433:C:A	(self)
ss66275871	NT_007933.16:25029654:C:G	NC_000007.14:87536433:C:G	(self)
ss75927526, ss112311708, ss114052543, ss164774659, ss169234618, ss480474939, ss491275667, ss491909112, ss1594082951, ss1712968796, ss3643643318	NC_000007.12:87003685:C:T	NC_000007.14:87536433:C:T	(self)
38016644, 21154960, 413752, 15069498, 8874005, 49726, 8459095, 5701543, 746299, 9446320, 22254487, 286374, 8119335, 9812131, 19833565, 5304585, 42256995, 21154960, 4718592, ss223188020, ss234063983, ss241001976, ss480489279, ss481288406, ss485034950, ss490948064, ss537058520, ss560134833, ss654533872, ss712784070, ss778486571, ss782963719, ss783925665, ss832219964, ss832882209, ss833473039, ss833942513, ss974464791, ss984507063, ss1067489406, ss1074771646, ss1326014669, ss1582294156, ss1584053265, ss1618630837, ss1661624870, ss1688803234, ss1711170614, ss1752698144, ss1805098566, ss1927770201, ss1959029260, ss2024567517, ss2152788231, ss2634628909, ss2708492909, ss2736539108, ss2747854133, ss2855816995, ss2985411540, ss2986042882, ss3001577757, ss3022753947, ss3029637890, ss3347717415, ss3629856488, ss3632535097, ss3633469253, ss3634194486, ss3635128989, ss3635874146, ss3636862444, ss3637627139, ss3638708234, ss3640836281, ss3646358873, ss3653287619, ss3654172905, ss3669331250, ss3734834470, ss3745429006, ss3766828651, ss3772921909, ss3824288342, ss3825722607, ss3830685665, ss3838840881, ss3867816585, ss3915077093, ss3984371718, ss3986387903, ss4017345516, ss5184287688, ss5315261491, ss5374981768, ss5509036650, ss5624168320, ss5643428798, ss5799729808, ss5823147885, ss5848685741, ss5972605520	NC_000007.13:87165749:C:T	NC_000007.14:87536433:C:T	(self)
49904261, 268207535, 3438482, 18406499, 602822, 11499, 58722912, 591018639, 7326254394, ss2295532419, ss3026077214, ss3720146351, ss3726459173, ss3771381353, ss3810002155, ss3844295672, ss3962028498, ss4753641080, ss5273747294, ss5470746545, ss5562378326, ss5724885808, ss5808856777, ss5855990799, ss5859763714	NC_000007.14:87536433:C:T	NC_000007.14:87536433:C:T	(self)
ss14589258	NT_007933.13:12399965:C:T	NC_000007.14:87536433:C:T	(self)
ss3189031, ss5602915, ss35072194, ss69367500, ss69369678, ss75235527, ss79313656, ss81731599, ss84163617, ss105439490, ss153889028, ss159370382, ss160518518, ss173198676	NT_007933.15:25198592:C:T	NC_000007.14:87536433:C:T	(self)

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

17 citations for rs2235040

PMID	Title	Author	Year	Journal
18382661	Pharmacokinetic genes do not influence response or tolerance to citalopram in the STAR*D sample.	Peters EJ et al.	2008	PloS one
19403460	Pharmacogenetics of antidepressant response: an update.	Drago A et al.	2009	Human genomics
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
20948663	The ABCB1 transporter gene and antidepressant response.	Peters EJ et al.	2009	F1000 biology reports
21687501	Pharmacogenetics of antidepressants.	Crisafulli C et al.	2011	Frontiers in pharmacology
22641028	ABCB1 gene variants influence tolerance to selective serotonin reuptake inhibitors in a large sample of Dutch cases with major depressive disorder.	de Klerk OL et al.	2013	The pharmacogenomics journal
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
24128936	PharmGKB summary: venlafaxine pathway.	Sangkuhl K et al.	2014	Pharmacogenetics and genomics
24885933	Towards the clinical implementation of pharmacogenetics in bipolar disorder.	Salloum NC et al.	2014	BMC medicine
25487678	ABCB1 (MDR1) predicts remission on P-gp substrates in chronic depression.	Ray A et al.	2015	The pharmacogenomics journal
25847751	ABCB1 gene variants and antidepressant treatment outcome: A meta-analysis.	Breitenstein B et al.	2015	American journal of medical genetics. Part B, Neuropsychiatric genetics
26347319	Case-control association study of ABCB1 gene and major depressive disorder in a local Chinese Han population.	Xie WW et al.	2015	Neuropsychiatric disease and treatment
27529241	The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key?	Daud AN et al.	2016	International journal of molecular sciences
28762371	Imatinib-induced ophthalmological side-effects in GIST patients are associated with the variations of EGFR, SLC22A1, SLC22A5 and ABCB1.	Qiu HB et al.	2018	The pharmacogenomics journal
31333472	ABCB1 Gene Is Associated With Clinical Response to SNRIs in a Local Chinese Han Population.	Shan XX et al.	2019	Frontiers in pharmacology
31634334	Modification of the association between paroxetine serum concentration and SERT-occupancy by ABCB1 (P-glycoprotein) polymorphisms in major depressive disorder.	Simoons M et al.	2020	Psychiatric genetics
34788473	Influence of eight ABCB1 polymorphisms on antidepressant response in a prospective cohort of treatment-free Russian patients with moderate or severe depression: An explorative psychopharmacological study with naturalistic design.	Geers LM et al.	2022	Human psychopharmacology

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2235040