Name: rs7668258
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.

rs7668258

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:69096360 (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=0.409725 (108450/264690, TOPMED)
T=0.494328 (78703/159212, ALFA)
T=0.424488 (59413/139964, GnomAD) (+ 22 more)
T=0.31775 (25006/78696, PAGE_STUDY)
T=0.28399 (8025/28258, 14KJPN)
T=0.28126 (4714/16760, 8.3KJPN)
T=0.3329 (2132/6404, 1000G_30x)
T=0.3349 (1677/5008, 1000G)
C=0.4460 (1998/4480, Estonian)
C=0.4567 (1760/3854, ALSPAC)
C=0.4539 (1683/3708, TWINSUK)
T=0.3171 (929/2930, KOREAN)
T=0.3408 (642/1884, HapMap)
T=0.3286 (602/1832, Korea1K)
C=0.439 (438/998, GoNL)
C=0.496 (443/894, PharmGKB)
T=0.346 (272/786, PRJEB37584)
C=0.423 (254/600, NorthernSweden)
C=0.026 (14/534, MGP)
T=0.232 (111/478, SGDP_PRJ)
T=0.449 (97/216, Qatari)
T=0.278 (60/216, Vietnamese)
T=0.23 (16/70, Ancient Sardinia)
T=0.40 (17/42, Siberian)
C=0.35 (14/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: UGT2B7 : Intron Variant
Publications: 10 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
Total	Global	159306	T=0.494263	C=0.505737
European	Sub	134952	T=0.521623	C=0.478377
African	Sub	9748	T=0.2966	C=0.7034
African Others	Sub	324	T=0.238	C=0.762
African American	Sub	9424	T=0.2986	C=0.7014
Asian	Sub	666	T=0.284	C=0.716
East Asian	Sub	534	T=0.294	C=0.706
Other Asian	Sub	132	T=0.242	C=0.758
Latin American 1	Sub	752	T=0.398	C=0.602
Latin American 2	Sub	6316	T=0.2912	C=0.7088
South Asian	Sub	192	T=0.500	C=0.500
Other	Sub	6680	T=0.4537	C=0.5463

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=0.409725	C=0.590275
Allele Frequency Aggregator	Total	Global	159212	T=0.494328	C=0.505672
Allele Frequency Aggregator	European	Sub	134876	T=0.521687	C=0.478313
Allele Frequency Aggregator	African	Sub	9748	T=0.2966	C=0.7034
Allele Frequency Aggregator	Other	Sub	6662	T=0.4542	C=0.5458
Allele Frequency Aggregator	Latin American 2	Sub	6316	T=0.2912	C=0.7088
Allele Frequency Aggregator	Latin American 1	Sub	752	T=0.398	C=0.602
Allele Frequency Aggregator	Asian	Sub	666	T=0.284	C=0.716
Allele Frequency Aggregator	South Asian	Sub	192	T=0.500	C=0.500
gnomAD - Genomes	Global	Study-wide	139964	T=0.424488	C=0.575512
gnomAD - Genomes	European	Sub	75806	T=0.51711	C=0.48289
gnomAD - Genomes	African	Sub	41960	T=0.28918	C=0.71082
gnomAD - Genomes	American	Sub	13602	T=0.34348	C=0.65652
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.4886	C=0.5114
gnomAD - Genomes	East Asian	Sub	3120	T=0.2978	C=0.7022
gnomAD - Genomes	Other	Sub	2154	T=0.3969	C=0.6031
The PAGE Study	Global	Study-wide	78696	T=0.31775	C=0.68225
The PAGE Study	AfricanAmerican	Sub	32514	T=0.30125	C=0.69875
The PAGE Study	Mexican	Sub	10808	T=0.30450	C=0.69550
The PAGE Study	Asian	Sub	8318	T=0.2932	C=0.7068
The PAGE Study	PuertoRican	Sub	7916	T=0.3622	C=0.6378
The PAGE Study	NativeHawaiian	Sub	4534	T=0.2748	C=0.7252
The PAGE Study	Cuban	Sub	4230	T=0.4158	C=0.5842
The PAGE Study	Dominican	Sub	3828	T=0.3464	C=0.6536
The PAGE Study	CentralAmerican	Sub	2450	T=0.3045	C=0.6955
The PAGE Study	SouthAmerican	Sub	1982	T=0.3209	C=0.6791
The PAGE Study	NativeAmerican	Sub	1260	T=0.4325	C=0.5675
The PAGE Study	SouthAsian	Sub	856	T=0.416	C=0.584
14KJPN	JAPANESE	Study-wide	28258	T=0.28399	C=0.71601
8.3KJPN	JAPANESE	Study-wide	16760	T=0.28126	C=0.71874
1000Genomes_30x	Global	Study-wide	6404	T=0.3329	C=0.6671
1000Genomes_30x	African	Sub	1786	T=0.2234	C=0.7766
1000Genomes_30x	Europe	Sub	1266	T=0.4937	C=0.5063
1000Genomes_30x	South Asian	Sub	1202	T=0.3910	C=0.6090
1000Genomes_30x	East Asian	Sub	1170	T=0.2744	C=0.7256
1000Genomes_30x	American	Sub	980	T=0.323	C=0.677
1000Genomes	Global	Study-wide	5008	T=0.3349	C=0.6651
1000Genomes	African	Sub	1322	T=0.2269	C=0.7731
1000Genomes	East Asian	Sub	1008	T=0.2748	C=0.7252
1000Genomes	Europe	Sub	1006	T=0.4851	C=0.5149
1000Genomes	South Asian	Sub	978	T=0.399	C=0.601
1000Genomes	American	Sub	694	T=0.320	C=0.680
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.5540	C=0.4460
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.5433	C=0.4567
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.5461	C=0.4539
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.3171	A=0.0000, C=0.6829, G=0.0000
HapMap	Global	Study-wide	1884	T=0.3408	C=0.6592
HapMap	American	Sub	766	T=0.386	C=0.614
HapMap	African	Sub	690	T=0.259	C=0.741
HapMap	Asian	Sub	252	T=0.313	C=0.687
HapMap	Europe	Sub	176	T=0.500	C=0.500
Korean Genome Project	KOREAN	Study-wide	1832	T=0.3286	C=0.6714
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.561	C=0.439
PharmGKB Aggregated	Global	Study-wide	894	T=0.504	C=0.496
PharmGKB Aggregated	PA151701636	Sub	472	T=0.536	C=0.464
PharmGKB Aggregated	PA128522472	Sub	188	T=0.452	C=0.548
PharmGKB Aggregated	PA128767580	Sub	166	T=0.524	C=0.476
PharmGKB Aggregated	PA131861778	Sub	34	T=0.38	C=0.62
PharmGKB Aggregated	PA131862077	Sub	34	T=0.38	C=0.62
CNV burdens in cranial meningiomas	Global	Study-wide	786	T=0.346	C=0.654
CNV burdens in cranial meningiomas	CRM	Sub	786	T=0.346	C=0.654
Northern Sweden	ACPOP	Study-wide	600	T=0.577	C=0.423
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.974	C=0.026
SGDP_PRJ	Global	Study-wide	478	T=0.232	C=0.768
Qatari	Global	Study-wide	216	T=0.449	C=0.551
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.278	C=0.722
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	70	T=0.23	C=0.77
Siberian	Global	Study-wide	42	T=0.40	C=0.60
The Danish reference pan genome	Danish	Study-wide	40	T=0.65	C=0.35

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 4	NC_000004.12:g.69096360T>A
GRCh38.p14 chr 4	NC_000004.12:g.69096360T>C
GRCh38.p14 chr 4	NC_000004.12:g.69096360T>G
GRCh37.p13 chr 4	NC_000004.11:g.69962078T>A
GRCh37.p13 chr 4	NC_000004.11:g.69962078T>C
GRCh37.p13 chr 4	NC_000004.11:g.69962078T>G

Gene: UGT2B7, UDP glucuronosyltransferase family 2 member B7 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT2B7 transcript variant 3	NM_001349568.2:c.-26-2180… NM_001349568.2:c.-26-2180T>A	N/A	Intron Variant
UGT2B7 transcript variant 1	NM_001074.4:c.	N/A	Genic Upstream Transcript Variant
UGT2B7 transcript variant 2	NM_001330719.2:c.	N/A	Genic Upstream 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: C (allele ID: 816539 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001028172.4	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=	A	C	G
GRCh38.p14 chr 4	NC_000004.12:g.69096360=	NC_000004.12:g.69096360T>A	NC_000004.12:g.69096360T>C	NC_000004.12:g.69096360T>G
GRCh37.p13 chr 4	NC_000004.11:g.69962078=	NC_000004.11:g.69962078T>A	NC_000004.11:g.69962078T>C	NC_000004.11:g.69962078T>G
UGT2B7 transcript variant 3	NM_001349568.2:c.-26-2180=	NM_001349568.2:c.-26-2180T>A	NM_001349568.2:c.-26-2180T>C	NM_001349568.2:c.-26-2180T>G
UGT2B7 transcript variant X1	XM_005265702.1:c.-26-2180=	XM_005265702.1:c.-26-2180T>A	XM_005265702.1:c.-26-2180T>C	XM_005265702.1:c.-26-2180T>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#.

126 SubSNP, 25 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss11637556	Jul 11, 2003 (116)
2	KYUGEN	ss28477041	Sep 20, 2004 (126)
3	PERLEGEN	ss46543731	Mar 10, 2006 (126)
4	ILLUMINA	ss65761831	Oct 16, 2006 (127)
5	PHARMGKB_PAAR-UCHI	ss69369039	May 18, 2007 (127)
6	PHARMGKB_PAAR-UCHI	ss69369812	May 18, 2007 (127)
7	PHARMGKB_PAAR-UCHI	ss69369820	May 18, 2007 (127)
8	PHARMGKB_PAAR-UCHI	ss69370826	May 18, 2007 (127)
9	ILLUMINA	ss74897792	Dec 07, 2007 (129)
10	PHARMGKB_PNAT	ss84149974	Dec 15, 2007 (130)
11	HGSV	ss85817053	Dec 15, 2007 (130)
12	BCMHGSC_JDW	ss92629015	Mar 24, 2008 (129)
13	BGI	ss105835374	Feb 06, 2009 (130)
14	1000GENOMES	ss108020442	Jan 22, 2009 (130)
15	1000GENOMES	ss109964338	Jan 24, 2009 (130)
16	ILLUMINA-UK	ss117033966	Feb 14, 2009 (130)
17	KRIBB_YJKIM	ss119563337	Dec 01, 2009 (131)
18	ENSEMBL	ss139675406	Dec 01, 2009 (131)
19	GMI	ss157401843	Dec 01, 2009 (131)
20	ILLUMINA	ss160901845	Dec 01, 2009 (131)
21	COMPLETE_GENOMICS	ss163561278	Jul 04, 2010 (132)
22	ILLUMINA	ss174484598	Jul 04, 2010 (132)
23	BUSHMAN	ss198652644	Jul 04, 2010 (132)
24	1000GENOMES	ss220980123	Jul 14, 2010 (132)
25	1000GENOMES	ss232432208	Jul 14, 2010 (132)
26	1000GENOMES	ss239717161	Jul 15, 2010 (132)
27	GMI	ss277762087	May 04, 2012 (137)
28	PJP	ss293094413	May 09, 2011 (134)
29	ILLUMINA	ss481637163	May 04, 2012 (137)
30	ILLUMINA	ss481667617	May 04, 2012 (137)
31	ILLUMINA	ss482634455	Sep 08, 2015 (146)
32	ILLUMINA	ss485613352	May 04, 2012 (137)
33	ILLUMINA	ss537498880	Sep 08, 2015 (146)
34	TISHKOFF	ss557578692	Apr 25, 2013 (138)
35	SSMP	ss651386582	Apr 25, 2013 (138)
36	ILLUMINA	ss778982112	Aug 21, 2014 (142)
37	ILLUMINA	ss783252287	Aug 21, 2014 (142)
38	ILLUMINA	ss784205866	Aug 21, 2014 (142)
39	ILLUMINA	ss832513063	Apr 01, 2015 (144)
40	ILLUMINA	ss834444271	Aug 21, 2014 (142)
41	EVA-GONL	ss980218490	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1071617018	Aug 21, 2014 (142)
43	1000GENOMES	ss1310131805	Aug 21, 2014 (142)
44	DDI	ss1429913912	Apr 01, 2015 (144)
45	EVA_GENOME_DK	ss1580599934	Apr 01, 2015 (144)
46	EVA_DECODE	ss1589718623	Apr 01, 2015 (144)
47	EVA_UK10K_ALSPAC	ss1610284579	Apr 01, 2015 (144)
48	EVA_UK10K_TWINSUK	ss1653278612	Apr 01, 2015 (144)
49	EVA_MGP	ss1711061708	Apr 01, 2015 (144)
50	EVA_SVP	ss1712678792	Apr 01, 2015 (144)
51	ILLUMINA	ss1752529514	Sep 08, 2015 (146)
52	HAMMER_LAB	ss1801602328	Sep 08, 2015 (146)
53	WEILL_CORNELL_DGM	ss1923460828	Feb 12, 2016 (147)
54	ILLUMINA	ss1958690690	Feb 12, 2016 (147)
55	GENOMED	ss1969766547	Jul 19, 2016 (147)
56	JJLAB	ss2022316723	Sep 14, 2016 (149)
57	USC_VALOUEV	ss2150443458	Dec 20, 2016 (150)
58	HUMAN_LONGEVITY	ss2263674175	Dec 20, 2016 (150)
59	SYSTEMSBIOZJU	ss2625657642	Nov 08, 2017 (151)
60	ILLUMINA	ss2634130366	Nov 08, 2017 (151)
61	GRF	ss2705914737	Nov 08, 2017 (151)
62	GNOMAD	ss2810423239	Nov 08, 2017 (151)
63	AFFY	ss2985294078	Nov 08, 2017 (151)
64	AFFY	ss2985919498	Nov 08, 2017 (151)
65	SWEGEN	ss2994861527	Nov 08, 2017 (151)
66	ILLUMINA	ss3022381359	Nov 08, 2017 (151)
67	BIOINF_KMB_FNS_UNIBA	ss3024931886	Nov 08, 2017 (151)
68	CSHL	ss3345762241	Nov 08, 2017 (151)
69	ILLUMINA	ss3628983424	Oct 12, 2018 (152)
70	ILLUMINA	ss3632066231	Oct 12, 2018 (152)
71	ILLUMINA	ss3633337254	Oct 12, 2018 (152)
72	ILLUMINA	ss3634056322	Oct 12, 2018 (152)
73	ILLUMINA	ss3634955092	Oct 12, 2018 (152)
74	ILLUMINA	ss3635739192	Oct 12, 2018 (152)
75	ILLUMINA	ss3636658698	Oct 12, 2018 (152)
76	ILLUMINA	ss3637491710	Oct 12, 2018 (152)
77	ILLUMINA	ss3638490693	Oct 12, 2018 (152)
78	ILLUMINA	ss3640662388	Oct 12, 2018 (152)
79	ILLUMINA	ss3643441737	Oct 12, 2018 (152)
80	ILLUMINA	ss3652866321	Oct 12, 2018 (152)
81	ILLUMINA	ss3654065298	Oct 12, 2018 (152)
82	EGCUT_WGS	ss3662749301	Jul 13, 2019 (153)
83	EVA_DECODE	ss3712242817	Jul 13, 2019 (153)
84	ILLUMINA	ss3726140139	Jul 13, 2019 (153)
85	ACPOP	ss3731237629	Jul 13, 2019 (153)
86	ILLUMINA	ss3745255375	Jul 13, 2019 (153)
87	EVA	ss3761916698	Jul 13, 2019 (153)
88	PAGE_CC	ss3771129948	Jul 13, 2019 (153)
89	ILLUMINA	ss3772749985	Jul 13, 2019 (153)
90	PACBIO	ss3784742529	Jul 13, 2019 (153)
91	PACBIO	ss3790196801	Jul 13, 2019 (153)
92	PACBIO	ss3795072007	Jul 13, 2019 (153)
93	KHV_HUMAN_GENOMES	ss3805056532	Jul 13, 2019 (153)
94	EVA	ss3828594219	Apr 26, 2020 (154)
95	EVA	ss3837737220	Apr 26, 2020 (154)
96	EVA	ss3843174200	Apr 26, 2020 (154)
97	SGDP_PRJ	ss3859161673	Apr 26, 2020 (154)
98	KRGDB	ss3905410695	Apr 26, 2020 (154)
99	KOGIC	ss3954357197	Apr 26, 2020 (154)
100	FSA-LAB	ss3984284744	Apr 26, 2021 (155)
101	EVA	ss3984529329	Apr 26, 2021 (155)
102	EVA	ss3985074205	Apr 26, 2021 (155)
103	EVA	ss4017149716	Apr 26, 2021 (155)
104	TOPMED	ss4617225751	Apr 26, 2021 (155)
105	TOMMO_GENOMICS	ss5166147571	Apr 26, 2021 (155)
106	1000G_HIGH_COVERAGE	ss5259548246	Oct 13, 2022 (156)
107	EVA	ss5314964404	Oct 13, 2022 (156)
108	EVA	ss5349632172	Oct 13, 2022 (156)
109	HUGCELL_USP	ss5458271692	Oct 13, 2022 (156)
110	EVA	ss5507555427	Oct 13, 2022 (156)
111	1000G_HIGH_COVERAGE	ss5540817310	Oct 13, 2022 (156)
112	EVA	ss5624139614	Oct 13, 2022 (156)
113	SANFORD_IMAGENETICS	ss5624557762	Oct 13, 2022 (156)
114	SANFORD_IMAGENETICS	ss5635236833	Oct 13, 2022 (156)
115	TOMMO_GENOMICS	ss5700611088	Oct 13, 2022 (156)
116	EVA	ss5799617171	Oct 13, 2022 (156)
117	EVA	ss5800115628	Oct 13, 2022 (156)
118	YY_MCH	ss5805171780	Oct 13, 2022 (156)
119	EVA	ss5844131859	Oct 13, 2022 (156)
120	EVA	ss5847244574	Oct 13, 2022 (156)
121	EVA	ss5848012672	Oct 13, 2022 (156)
122	EVA	ss5854266583	Oct 13, 2022 (156)
123	EVA	ss5863831257	Oct 13, 2022 (156)
124	EVA	ss5963610311	Oct 13, 2022 (156)
125	EVA	ss5979702775	Oct 13, 2022 (156)
126	EVA	ss5980229472	Oct 13, 2022 (156)
127	1000Genomes	NC_000004.11 - 69962078	Oct 12, 2018 (152)
128	1000Genomes_30x	NC_000004.12 - 69096360	Oct 13, 2022 (156)
129	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 69962078	Oct 12, 2018 (152)
130	Genetic variation in the Estonian population	NC_000004.11 - 69962078	Oct 12, 2018 (152)
131	The Danish reference pan genome	NC_000004.11 - 69962078	Apr 26, 2020 (154)
132	gnomAD - Genomes	NC_000004.12 - 69096360	Apr 26, 2021 (155)
133	Genome of the Netherlands Release 5	NC_000004.11 - 69962078	Apr 26, 2020 (154)
134	HapMap	NC_000004.12 - 69096360	Apr 26, 2020 (154)
135	KOREAN population from KRGDB	NC_000004.11 - 69962078	Apr 26, 2020 (154)
136	Korean Genome Project	NC_000004.12 - 69096360	Apr 26, 2020 (154)
137	Medical Genome Project healthy controls from Spanish population	NC_000004.11 - 69962078	Apr 26, 2020 (154)
138	Northern Sweden	NC_000004.11 - 69962078	Jul 13, 2019 (153)
139	The PAGE Study	NC_000004.12 - 69096360	Jul 13, 2019 (153)
140	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000004.11 - 69962078	Apr 26, 2021 (155)
141	CNV burdens in cranial meningiomas	NC_000004.11 - 69962078	Apr 26, 2021 (155)
142	PharmGKB Aggregated	NC_000004.12 - 69096360	Apr 26, 2020 (154)
143	Qatari	NC_000004.11 - 69962078	Apr 26, 2020 (154)
144	SGDP_PRJ	NC_000004.11 - 69962078	Apr 26, 2020 (154)
145	Siberian	NC_000004.11 - 69962078	Apr 26, 2020 (154)
146	8.3KJPN	NC_000004.11 - 69962078	Apr 26, 2021 (155)
147	14KJPN	NC_000004.12 - 69096360	Oct 13, 2022 (156)
148	TopMed	NC_000004.12 - 69096360	Apr 26, 2021 (155)
149	UK 10K study - Twins	NC_000004.11 - 69962078	Oct 12, 2018 (152)
150	A Vietnamese Genetic Variation Database	NC_000004.11 - 69962078	Jul 13, 2019 (153)
151	ALFA	NC_000004.12 - 69096360	Apr 26, 2021 (155)
152	ClinVar	RCV001028172.4	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)
rs17551675	Mar 10, 2006 (126)
rs60174701	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
12588089, ss3905410695	NC_000004.11:69962077:T:A	NC_000004.12:69096359:T:A	(self)
ss85817053	NC_000004.9:70142837:T:C	NC_000004.12:69096359:T:C	(self)
ss92629015, ss108020442, ss109964338, ss117033966, ss160901845, ss163561278, ss198652644, ss277762087, ss293094413, ss481637163, ss1589718623, ss1712678792, ss3643441737	NC_000004.10:69996666:T:C	NC_000004.12:69096359:T:C	(self)
21541393, 11976949, 8487549, 6764873, 5287594, 12588089, 177468, 4522494, 300132, 78689, 5502758, 11178653, 2959812, 24116878, 11976949, 2636842, ss220980123, ss232432208, ss239717161, ss481667617, ss482634455, ss485613352, ss537498880, ss557578692, ss651386582, ss778982112, ss783252287, ss784205866, ss832513063, ss834444271, ss980218490, ss1071617018, ss1310131805, ss1429913912, ss1580599934, ss1610284579, ss1653278612, ss1711061708, ss1752529514, ss1801602328, ss1923460828, ss1958690690, ss1969766547, ss2022316723, ss2150443458, ss2625657642, ss2634130366, ss2705914737, ss2810423239, ss2985294078, ss2985919498, ss2994861527, ss3022381359, ss3345762241, ss3628983424, ss3632066231, ss3633337254, ss3634056322, ss3634955092, ss3635739192, ss3636658698, ss3637491710, ss3638490693, ss3640662388, ss3652866321, ss3654065298, ss3662749301, ss3731237629, ss3745255375, ss3761916698, ss3772749985, ss3784742529, ss3790196801, ss3795072007, ss3828594219, ss3837737220, ss3859161673, ss3905410695, ss3984284744, ss3984529329, ss3985074205, ss4017149716, ss5166147571, ss5314964404, ss5349632172, ss5507555427, ss5624139614, ss5624557762, ss5635236833, ss5799617171, ss5800115628, ss5844131859, ss5847244574, ss5848012672, ss5963610311, ss5979702775, ss5980229472	NC_000004.11:69962077:T:C	NC_000004.12:69096359:T:C	(self)
RCV001028172.4, 28343245, 152625403, 2631892, 10735198, 351417, 9400, 34448192, 454603307, 3184185215, ss2263674175, ss3024931886, ss3712242817, ss3726140139, ss3771129948, ss3805056532, ss3843174200, ss3954357197, ss4617225751, ss5259548246, ss5458271692, ss5540817310, ss5700611088, ss5805171780, ss5854266583, ss5863831257	NC_000004.12:69096359:T:C	NC_000004.12:69096359:T:C	(self)
ss28477041, ss46543731, ss65761831, ss69369039, ss69369812, ss69369820, ss69370826, ss74897792, ss84149974, ss105835374, ss119563337, ss139675406, ss157401843, ss174484598	NT_022778.16:10172744:T:C	NC_000004.12:69096359:T:C	(self)
ss11637556	NT_077444.2:621225:T:C	NC_000004.12:69096359:T:C	(self)
12588089, ss3905410695	NC_000004.11:69962077:T:G	NC_000004.12:69096359:T:G	(self)

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

10 citations for rs7668258

PMID	Title	Author	Year	Journal
18622261	Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene.	Innocenti F et al.	2008	Pharmacogenetics and genomics
26779253	An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3'-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients.	Swart M et al.	2015	Frontiers in genetics
26785747	Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.	Iskakova AN et al.	2016	BMC genetics
26858644	Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling.	Chua EW et al.	2016	Frontiers in pharmacology
27406852	Influence of acylpeptide hydrolase polymorphisms on valproic acid level in Chinese epilepsy patients.	Wen ZP et al.	2016	Pharmacogenomics
29623639	Pharmacogenetics of Opioid Use Disorder Treatment.	Crist RC et al.	2018	CNS drugs
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
31474408	Association of UGT2B7 and CaMK4 with response of valproic acid in Chinese children with epilepsy.	Wang Y et al.	2020	Therapie
33569925	Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects.	Padula AM et al.	2021	Birth defects research
34000957	Influence of UGT2B7 and UGT1A6 polymorphisms on plasma concentration to dose ratio of valproic acid in Chinese epileptic children.	Du Z et al.	2021	Xenobiotica; the fate of foreign compounds in biological systems

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs7668258