Name: rs11692021
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.

rs11692021

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:233682559 (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 / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.349296 (87695/251062, GnomAD_exome)
C=0.339342 (47497/139968, GnomAD)
C=0.351293 (42642/121386, ExAC) (+ 18 more)
C=0.34983 (17271/49370, ALFA)
C=0.24890 (7033/28256, 14KJPN)
C=0.24749 (4148/16760, 8.3KJPN)
C=0.34922 (4542/13006, GO-ESP)
C=0.2970 (1902/6404, 1000G_30x)
C=0.2977 (1491/5008, 1000G)
C=0.3815 (1709/4480, Estonian)
C=0.3975 (1532/3854, ALSPAC)
C=0.3784 (1403/3708, TWINSUK)
C=0.2119 (621/2930, KOREAN)
C=0.397 (396/998, GoNL)
C=0.393 (236/600, NorthernSweden)
C=0.367 (196/534, MGP)
C=0.280 (140/500, PharmGKB)
T=0.413 (104/252, SGDP_PRJ)
C=0.380 (82/216, Qatari)
C=0.178 (38/214, Vietnamese)
T=0.41 (14/34, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: UGT1A7 : Missense Variant
UGT1A10 : Intron Variant
UGT1A8 : Intron Variant (+ 1 more)
UGT1A9 : Intron Variant
Publications: 18 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	65808	T=0.64977	C=0.35023, G=0.00000	0.43715	0.137612	0.425237	32
European	Sub	49006	T=0.63147	C=0.36853, G=0.00000	0.412154	0.149206	0.43864	32
African	Sub	7336	T=0.7695	C=0.2305, G=0.0000	0.604962	0.065976	0.329062	11
African Others	Sub	260	T=0.688	C=0.312, G=0.000	0.492308	0.115385	0.392308	1
African American	Sub	7076	T=0.7725	C=0.2275, G=0.0000	0.609101	0.064161	0.326738	10
Asian	Sub	132	T=0.902	C=0.098, G=0.000	0.833333	0.030303	0.136364	2
East Asian	Sub	80	T=0.91	C=0.09, G=0.00	0.85	0.025	0.125	1
Other Asian	Sub	52	T=0.88	C=0.12, G=0.00	0.807692	0.038462	0.153846	1
Latin American 1	Sub	414	T=0.720	C=0.280, G=0.000	0.516908	0.077295	0.405797	0
Latin American 2	Sub	388	T=0.982	C=0.018, G=0.000	0.974227	0.010309	0.015464	32
South Asian	Sub	34	T=1.00	C=0.00, G=0.00	1.0	0.0	0.0	N/A
Other	Sub	8498	T=0.6280	C=0.3720, G=0.0000	0.399623	0.143563	0.456813	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
gnomAD - Exomes	Global	Study-wide	251062	T=0.650704	C=0.349296
gnomAD - Exomes	European	Sub	135016	T=0.602358	C=0.397642
gnomAD - Exomes	Asian	Sub	48996	T=0.66993	C=0.33007
gnomAD - Exomes	American	Sub	34590	T=0.79829	C=0.20171
gnomAD - Exomes	African	Sub	16256	T=0.73770	C=0.26230
gnomAD - Exomes	Ashkenazi Jewish	Sub	10078	T=0.55993	C=0.44007
gnomAD - Exomes	Other	Sub	6126	T=0.6476	C=0.3524
gnomAD - Genomes	Global	Study-wide	139968	T=0.660658	C=0.339342
gnomAD - Genomes	European	Sub	75798	T=0.60503	C=0.39497
gnomAD - Genomes	African	Sub	41936	T=0.73457	C=0.26543
gnomAD - Genomes	American	Sub	13634	T=0.72811	C=0.27189
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.5602	C=0.4398
gnomAD - Genomes	East Asian	Sub	3126	T=0.8145	C=0.1855
gnomAD - Genomes	Other	Sub	2150	T=0.6842	C=0.3158
ExAC	Global	Study-wide	121386	T=0.648707	C=0.351293
ExAC	Europe	Sub	73344	T=0.60575	C=0.39425
ExAC	Asian	Sub	25160	T=0.66161	C=0.33839
ExAC	American	Sub	11572	T=0.81421	C=0.18579
ExAC	African	Sub	10402	T=0.73707	C=0.26293
ExAC	Other	Sub	908	T=0.640	C=0.360
Allele Frequency Aggregator	Total	Global	49370	T=0.65017	C=0.34983, G=0.00000
Allele Frequency Aggregator	European	Sub	38856	T=0.63751	C=0.36249, G=0.00000
Allele Frequency Aggregator	Other	Sub	7046	T=0.6262	C=0.3738, G=0.0000
Allele Frequency Aggregator	African	Sub	2500	T=0.8336	C=0.1664, G=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	414	T=0.720	C=0.280, G=0.000
Allele Frequency Aggregator	Latin American 2	Sub	388	T=0.982	C=0.018, G=0.000
Allele Frequency Aggregator	Asian	Sub	132	T=0.902	C=0.098, G=0.000
Allele Frequency Aggregator	South Asian	Sub	34	T=1.00	C=0.00, G=0.00
14KJPN	JAPANESE	Study-wide	28256	T=0.75110	C=0.24890
8.3KJPN	JAPANESE	Study-wide	16760	T=0.75251	C=0.24749
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.65078	C=0.34922
GO Exome Sequencing Project	European American	Sub	8600	T=0.6127	C=0.3873
GO Exome Sequencing Project	African American	Sub	4406	T=0.7251	C=0.2749
1000Genomes_30x	Global	Study-wide	6404	T=0.7030	C=0.2970
1000Genomes_30x	African	Sub	1786	T=0.7497	C=0.2503
1000Genomes_30x	Europe	Sub	1266	T=0.6367	C=0.3633
1000Genomes_30x	South Asian	Sub	1202	T=0.5740	C=0.4260
1000Genomes_30x	East Asian	Sub	1170	T=0.8034	C=0.1966
1000Genomes_30x	American	Sub	980	T=0.742	C=0.258
1000Genomes	Global	Study-wide	5008	T=0.7023	C=0.2977
1000Genomes	African	Sub	1322	T=0.7504	C=0.2496
1000Genomes	East Asian	Sub	1008	T=0.8036	C=0.1964
1000Genomes	Europe	Sub	1006	T=0.6402	C=0.3598
1000Genomes	South Asian	Sub	978	T=0.573	C=0.427
1000Genomes	American	Sub	694	T=0.736	C=0.264
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6185	C=0.3815
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6025	C=0.3975
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6216	C=0.3784
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.7881	C=0.2119
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.603	C=0.397
Northern Sweden	ACPOP	Study-wide	600	T=0.607	C=0.393
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.633	C=0.367
PharmGKB Aggregated	Global	Study-wide	500	T=0.720	C=0.280
PharmGKB Aggregated	PA148754319	Sub	358	T=0.746	C=0.254
PharmGKB Aggregated	PA141920088	Sub	142	T=0.655	C=0.345
SGDP_PRJ	Global	Study-wide	252	T=0.413	C=0.587
Qatari	Global	Study-wide	216	T=0.620	C=0.380
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.822	C=0.178
Siberian	Global	Study-wide	34	T=0.41	C=0.59

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 2	NC_000002.12:g.233682559T>C
GRCh38.p14 chr 2	NC_000002.12:g.233682559T>G
GRCh37.p13 chr 2	NC_000002.11:g.234591205T>C
GRCh37.p13 chr 2	NC_000002.11:g.234591205T>G
UGT1A RefSeqGene	NG_002601.2:g.97816T>C
UGT1A RefSeqGene	NG_002601.2:g.97816T>G

Gene: UGT1A10, UDP glucuronosyltransferase family 1 member A10 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A10 transcript	NM_019075.4:c.855+45182T>C	N/A	Intron Variant

Gene: UGT1A8, UDP glucuronosyltransferase family 1 member A8 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A8 transcript	NM_019076.5:c.855+63997T>C	N/A	Intron Variant

Gene: UGT1A9, UDP glucuronosyltransferase family 1 member A9 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A9 transcript	NM_021027.3:c.855+9770T>C	N/A	Intron Variant

Gene: UGT1A7, UDP glucuronosyltransferase family 1 member A7 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A7 transcript	NM_019077.3:c.622T>C	W [TGG] > R [CGG]	Coding Sequence Variant
UDP-glucuronosyltransferase 1A7 precursor	NP_061950.2:p.Trp208Arg	W (Trp) > R (Arg)	Missense Variant
UGT1A7 transcript	NM_019077.3:c.622T>G	W [TGG] > G [GGG]	Coding Sequence Variant
UDP-glucuronosyltransferase 1A7 precursor	NP_061950.2:p.Trp208Gly	W (Trp) > G (Gly)	Missense 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: 434023 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001692163.5	not provided	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	T=	C	G
GRCh38.p14 chr 2	NC_000002.12:g.233682559=	NC_000002.12:g.233682559T>C	NC_000002.12:g.233682559T>G
GRCh37.p13 chr 2	NC_000002.11:g.234591205=	NC_000002.11:g.234591205T>C	NC_000002.11:g.234591205T>G
UGT1A RefSeqGene	NG_002601.2:g.97816=	NG_002601.2:g.97816T>C	NG_002601.2:g.97816T>G
UGT1A7 transcript	NM_019077.2:c.622=	NM_019077.2:c.622T>C	NM_019077.2:c.622T>G
UGT1A7 transcript	NM_019077.3:c.622=	NM_019077.3:c.622T>C	NM_019077.3:c.622T>G
UDP-glucuronosyltransferase 1A7 precursor	NP_061950.2:p.Trp208=	NP_061950.2:p.Trp208Arg	NP_061950.2:p.Trp208Gly
UGT1A10 transcript	NM_019075.2:c.855+45182=	NM_019075.2:c.855+45182T>C	NM_019075.2:c.855+45182T>G
UGT1A10 transcript	NM_019075.4:c.855+45182=	NM_019075.4:c.855+45182T>C	NM_019075.4:c.855+45182T>G
UGT1A8 transcript	NM_019076.4:c.855+63997=	NM_019076.4:c.855+63997T>C	NM_019076.4:c.855+63997T>G
UGT1A8 transcript	NM_019076.5:c.855+63997=	NM_019076.5:c.855+63997T>C	NM_019076.5:c.855+63997T>G
UGT1A9 transcript	NM_021027.2:c.855+9770=	NM_021027.2:c.855+9770T>C	NM_021027.2:c.855+9770T>G
UGT1A9 transcript	NM_021027.3:c.855+9770=	NM_021027.3:c.855+9770T>C	NM_021027.3:c.855+9770T>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#.

105 SubSNP, 23 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss16869218	Feb 28, 2004 (120)
2	BROAD	ss28519996	Oct 08, 2004 (124)
3	ABI	ss41568369	Mar 13, 2006 (126)
4	KRIBB_YJKIM	ss65834979	Dec 03, 2006 (127)
5	PHARMGKB_PAAR-UCHI	ss69366054	May 17, 2007 (127)
6	HGSV	ss78182061	Dec 07, 2007 (129)
7	PHARMGKB_AB_DME	ss84164082	Dec 14, 2007 (130)
8	HGSV	ss84942256	Dec 14, 2007 (130)
9	HUMANGENOME_JCVI	ss97131937	Feb 04, 2009 (130)
10	SNP500CANCER	ss105440050	Feb 04, 2009 (130)
11	ENSEMBL	ss139959941	Dec 01, 2009 (131)
12	ILLUMINA	ss153032627	Dec 01, 2009 (131)
13	ILLUMINA	ss159183947	Dec 01, 2009 (131)
14	SEATTLESEQ	ss159704034	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss165963827	Jul 04, 2010 (132)
16	ILLUMINA	ss171452560	Jul 04, 2010 (132)
17	BUSHMAN	ss201894859	Jul 04, 2010 (132)
18	BCM-HGSC-SUB	ss205940737	Jul 04, 2010 (132)
19	1000GENOMES	ss219880770	Jul 14, 2010 (132)
20	GMI	ss276943892	May 04, 2012 (137)
21	PJP	ss292510775	May 09, 2011 (134)
22	NHLBI-ESP	ss342105285	May 09, 2011 (134)
23	1000GENOMES	ss489858310	May 04, 2012 (137)
24	EXOME_CHIP	ss491333316	May 04, 2012 (137)
25	CLINSEQ_SNP	ss491802646	May 04, 2012 (137)
26	TISHKOFF	ss556304922	Apr 25, 2013 (138)
27	SSMP	ss649965774	Apr 25, 2013 (138)
28	ILLUMINA	ss832696446	Aug 21, 2014 (142)
29	ILLUMINA	ss833287135	Aug 21, 2014 (142)
30	EVA-GONL	ss978087900	Aug 21, 2014 (142)
31	JMKIDD_LAB	ss1070035739	Aug 21, 2014 (142)
32	1000GENOMES	ss1302132029	Aug 21, 2014 (142)
33	DDI	ss1428949840	Apr 01, 2015 (144)
34	EVA_DECODE	ss1587548059	Apr 01, 2015 (144)
35	EVA_UK10K_ALSPAC	ss1606056439	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1649050472	Apr 01, 2015 (144)
37	EVA_EXAC	ss1686798064	Apr 01, 2015 (144)
38	EVA_MGP	ss1711001211	Apr 01, 2015 (144)
39	HAMMER_LAB	ss1798565946	Sep 08, 2015 (146)
40	WEILL_CORNELL_DGM	ss1921335554	Feb 12, 2016 (147)
41	ILLUMINA	ss1958518438	Feb 12, 2016 (147)
42	JJLAB	ss2021216026	Sep 14, 2016 (149)
43	USC_VALOUEV	ss2149282182	Dec 20, 2016 (150)
44	HUMAN_LONGEVITY	ss2240158899	Dec 20, 2016 (150)
45	SYSTEMSBIOZJU	ss2625108220	Nov 08, 2017 (151)
46	GRF	ss2703934818	Nov 08, 2017 (151)
47	ILLUMINA	ss2710928820	Nov 08, 2017 (151)
48	GNOMAD	ss2733429967	Nov 08, 2017 (151)
49	GNOMAD	ss2746909464	Nov 08, 2017 (151)
50	GNOMAD	ss2787705282	Nov 08, 2017 (151)
51	AFFY	ss2985203867	Nov 08, 2017 (151)
52	AFFY	ss2985825091	Nov 08, 2017 (151)
53	SWEGEN	ss2991557388	Nov 08, 2017 (151)
54	ILLUMINA	ss3022082983	Nov 08, 2017 (151)
55	EVA_SAMSUNG_MC	ss3023058979	Nov 08, 2017 (151)
56	CSHL	ss3344798189	Nov 08, 2017 (151)
57	ILLUMINA	ss3638325504	Oct 11, 2018 (152)
58	OMUKHERJEE_ADBS	ss3646280225	Oct 11, 2018 (152)
59	URBANLAB	ss3647302670	Oct 11, 2018 (152)
60	ILLUMINA	ss3652535780	Oct 11, 2018 (152)
61	ILLUMINA	ss3653971884	Oct 11, 2018 (152)
62	EGCUT_WGS	ss3659455559	Jul 13, 2019 (153)
63	EVA_DECODE	ss3706265163	Jul 13, 2019 (153)
64	ACPOP	ss3729480483	Jul 13, 2019 (153)
65	EVA	ss3758233856	Jul 13, 2019 (153)
66	PACBIO	ss3784187830	Jul 13, 2019 (153)
67	PACBIO	ss3789721191	Jul 13, 2019 (153)
68	PACBIO	ss3794594637	Jul 13, 2019 (153)
69	KHV_HUMAN_GENOMES	ss3802596370	Jul 13, 2019 (153)
70	EVA	ss3823868623	Apr 25, 2020 (154)
71	EVA	ss3825520294	Apr 25, 2020 (154)
72	EVA	ss3825622175	Apr 25, 2020 (154)
73	EVA	ss3827569518	Apr 25, 2020 (154)
74	EVA	ss3837205177	Apr 25, 2020 (154)
75	EVA	ss3842627848	Apr 25, 2020 (154)
76	SGDP_PRJ	ss3854852664	Apr 25, 2020 (154)
77	KRGDB	ss3900601660	Apr 25, 2020 (154)
78	FSA-LAB	ss3984206745	Apr 27, 2021 (155)
79	FSA-LAB	ss3984206746	Apr 27, 2021 (155)
80	EVA	ss3986021476	Apr 27, 2021 (155)
81	EVA	ss3986220455	Apr 27, 2021 (155)
82	TOPMED	ss4548814189	Apr 27, 2021 (155)
83	TOPMED	ss4548814190	Apr 27, 2021 (155)
84	TOMMO_GENOMICS	ss5157053338	Apr 27, 2021 (155)
85	EVA	ss5236979529	Apr 27, 2021 (155)
86	EVA	ss5237638445	Oct 13, 2022 (156)
87	1000G_HIGH_COVERAGE	ss5252460956	Oct 13, 2022 (156)
88	TRAN_CS_UWATERLOO	ss5314405408	Oct 13, 2022 (156)
89	EVA	ss5506836900	Oct 13, 2022 (156)
90	1000G_HIGH_COVERAGE	ss5530016139	Oct 13, 2022 (156)
91	EVA	ss5623924102	Oct 13, 2022 (156)
92	EVA	ss5624109630	Oct 13, 2022 (156)
93	SANFORD_IMAGENETICS	ss5631197053	Oct 13, 2022 (156)
94	TOMMO_GENOMICS	ss5688104427	Oct 13, 2022 (156)
95	EVA	ss5799417971	Oct 13, 2022 (156)
96	EVA	ss5800050258	Oct 13, 2022 (156)
97	EVA	ss5800102953	Oct 13, 2022 (156)
98	YY_MCH	ss5803327514	Oct 13, 2022 (156)
99	EVA	ss5821759355	Oct 13, 2022 (156)
100	EVA	ss5848538664	Oct 13, 2022 (156)
101	EVA	ss5935198831	Oct 13, 2022 (156)
102	EVA	ss5936519483	Oct 13, 2022 (156)
103	EVA	ss5957462653	Oct 13, 2022 (156)
104	EVA	ss5980120037	Oct 13, 2022 (156)
105	EVA	ss5981211898	Oct 13, 2022 (156)
106	1000Genomes	NC_000002.11 - 234591205	Oct 11, 2018 (152)
107	1000Genomes_30x	NC_000002.12 - 233682559	Oct 13, 2022 (156)
108	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 234591205	Oct 11, 2018 (152)
109	Genetic variation in the Estonian population	NC_000002.11 - 234591205	Oct 11, 2018 (152)
110	ExAC	NC_000002.11 - 234591205	Oct 11, 2018 (152)
111	gnomAD - Genomes	NC_000002.12 - 233682559	Apr 27, 2021 (155)
112	gnomAD - Exomes	NC_000002.11 - 234591205	Jul 13, 2019 (153)
113	GO Exome Sequencing Project	NC_000002.11 - 234591205	Oct 11, 2018 (152)
114	Genome of the Netherlands Release 5	NC_000002.11 - 234591205	Apr 25, 2020 (154)
115	KOREAN population from KRGDB	NC_000002.11 - 234591205	Apr 25, 2020 (154)
116	Medical Genome Project healthy controls from Spanish population	NC_000002.11 - 234591205	Apr 25, 2020 (154)
117	Northern Sweden	NC_000002.11 - 234591205	Jul 13, 2019 (153)
118	PharmGKB Aggregated	NC_000002.12 - 233682559	Apr 25, 2020 (154)
119	Qatari	NC_000002.11 - 234591205	Apr 25, 2020 (154)
120	SGDP_PRJ	NC_000002.11 - 234591205	Apr 25, 2020 (154)
121	Siberian	NC_000002.11 - 234591205	Apr 25, 2020 (154)
122	8.3KJPN	NC_000002.11 - 234591205	Apr 27, 2021 (155)
123	14KJPN	NC_000002.12 - 233682559	Oct 13, 2022 (156)
124	TopMed Submission ignored due to conflicting rows: Row 352637068 (NC_000002.12:233682558:T:C 84690/264690) Row 352637069 (NC_000002.12:233682558:T:G 1/264690)	-	Apr 27, 2021 (155)
125	TopMed Submission ignored due to conflicting rows: Row 352637068 (NC_000002.12:233682558:T:C 84690/264690) Row 352637069 (NC_000002.12:233682558:T:G 1/264690)	-	Apr 27, 2021 (155)
126	UK 10K study - Twins	NC_000002.11 - 234591205	Oct 11, 2018 (152)
127	A Vietnamese Genetic Variation Database	NC_000002.11 - 234591205	Jul 13, 2019 (153)
128	ALFA	NC_000002.12 - 233682559	Apr 27, 2021 (155)
129	ClinVar	RCV001692163.5	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)
rs17863779	Dec 02, 2004 (124)
rs57605148	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78182061, ss84942256	NC_000002.9:234373204:T:C	NC_000002.12:233682558:T:C	(self)
ss165963827, ss201894859, ss205940737, ss276943892, ss292510775, ss491802646, ss1587548059	NC_000002.10:234255943:T:C	NC_000002.12:233682558:T:C	(self)
13255095, 7341625, 5193807, 6707476, 2498784, 327020, 3216416, 7779054, 117750, 2765348, 3377484, 6869644, 1798536, 15022645, 7341625, 1593737, ss219880770, ss342105285, ss489858310, ss491333316, ss556304922, ss649965774, ss832696446, ss833287135, ss978087900, ss1070035739, ss1302132029, ss1428949840, ss1606056439, ss1649050472, ss1686798064, ss1711001211, ss1798565946, ss1921335554, ss1958518438, ss2021216026, ss2149282182, ss2625108220, ss2703934818, ss2710928820, ss2733429967, ss2746909464, ss2787705282, ss2985203867, ss2985825091, ss2991557388, ss3022082983, ss3023058979, ss3344798189, ss3638325504, ss3646280225, ss3652535780, ss3653971884, ss3659455559, ss3729480483, ss3758233856, ss3784187830, ss3789721191, ss3794594637, ss3823868623, ss3825520294, ss3825622175, ss3827569518, ss3837205177, ss3854852664, ss3900601660, ss3984206745, ss3984206746, ss3986021476, ss3986220455, ss5157053338, ss5506836900, ss5623924102, ss5624109630, ss5631197053, ss5799417971, ss5800050258, ss5800102953, ss5821759355, ss5848538664, ss5936519483, ss5957462653, ss5980120037, ss5981211898	NC_000002.11:234591204:T:C	NC_000002.12:233682558:T:C	(self)
RCV001692163.5, 17542074, 94445128, 6802, 21941531, 120646352, ss2240158899, ss3647302670, ss3706265163, ss3802596370, ss3842627848, ss4548814189, ss5236979529, ss5237638445, ss5252460956, ss5314405408, ss5530016139, ss5688104427, ss5803327514, ss5935198831	NC_000002.12:233682558:T:C	NC_000002.12:233682558:T:C	(self)
ss16869218	NT_005120.14:521738:T:C	NC_000002.12:233682558:T:C	(self)
ss28519996, ss41568369, ss65834979, ss69366054, ss84164082, ss97131937, ss105440050, ss139959941, ss153032627, ss159183947, ss159704034, ss171452560	NT_005120.16:537463:T:C	NC_000002.12:233682558:T:C	(self)
120646352, ss4548814190	NC_000002.12:233682558:T:G	NC_000002.12:233682558:T:G	(self)

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

18 citations for rs11692021

PMID	Title	Author	Year	Journal
17116718	Dietary phytoestrogen intake is associated with reduced colorectal cancer risk.	Cotterchio M et al.	2006	The Journal of nutrition
17160896	Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.	Shi M et al.	2007	American journal of human genetics
18990750	Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.	Cotterchio M et al.	2008	Cancer epidemiology, biomarkers & prevention
19572200	Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.	Di YM et al.	2009	The AAPS journal
20602618	Irinotecan pharmacogenomics.	Marsh S et al.	2010	Pharmacogenomics
20937634	Cigarette smoking, genetic variants in carcinogen-metabolizing enzymes, and colorectal cancer risk.	Cleary SP et al.	2010	American journal of epidemiology
21240526	Evaluation of the association studies of single nucleotide polymorphisms and hepatocellular carcinoma: a systematic review.	Jin F et al.	2011	Journal of cancer research and clinical oncology
21309756	Prevalence of clinically relevant UGT1A alleles and haplotypes in African populations.	Horsfall LJ et al.	2011	Annals of human genetics
22228101	Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer.	Tang W et al.	2012	Human molecular genetics
22301281	Genetic variants in carcinogen-metabolizing enzymes, cigarette smoking and pancreatic cancer risk.	Jang JH et al.	2012	Carcinogenesis
22724046	Polymorphisms in heterocyclic aromatic amines metabolism-related genes are associated with colorectal adenoma risk.	Eichholzer M et al.	2012	International journal of molecular epidemiology and genetics
22888291	Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han.	Zhang X et al.	2012	Genetics and molecular biology
25110414	Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years.	Panczyk M et al.	2014	World journal of gastroenterology
25175642	A novel system for predicting the toxicity of irinotecan based on statistical pattern recognition with UGT1A genotypes.	Tsunedomi R et al.	2014	International journal of oncology
27655273	Fire Usage and Ancient Hominin Detoxification Genes: Protective Ancestral Variants Dominate While Additional Derived Risk Variants Appear in Modern Humans.	Aarts JM et al.	2016	PloS one
29499902	Effect of UGT, SLCO, ABCB and ABCC polymorphisms on irinotecan toxicity.	García Gil S et al.	2018	Medicina clinica
34920277	Assessment of susceptibility to phthalate and DINCH exposure through CYP and UGT single nucleotide polymorphisms.	Stajnko A et al.	2022	Environment international
35064216	A single nucleotide polymorphism-based formula to predict the risk of propofol TCI concentration being over 4 µg mL(-1) at the time of loss of consciousness.	Zheng Z et al.	2022	The pharmacogenomics 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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11692021