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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs2070959

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr2:233693545 (GRCh38.p7) 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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.31279 (76960/246040, GnomAD)
G=0.28333 (35577/125568, TOPMED)
G=0.31334 (38032/121378, ExAC) (+ 5 more)
G=0.3062 (9460/30894, GnomAD)
G=0.3046 (3962/13006, GO-ESP)
G=0.278 (1390/5008, 1000G)
G=0.329 (1267/3854, ALSPAC)
G=0.309 (1145/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
UGT1A6 : Missense Variant
UGT1A10 : Intron Variant
UGT1A7 : Intron Variant (+ 2 more)
UGT1A8 : Intron Variant
UGT1A9 : Intron Variant
Publications
27 citations
Genomic View
See rs on genome
Help

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.p7 chr 2 NC_000002.12:g.233693545A>G
GRCh37.p13 chr 2 NC_000002.11:g.234602191A>G
UGT1A RefSeqGene NG_002601.2:g.108802A>G
Gene: UGT1A10, UDP glucuronosyltransferase family 1 member A10 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
UGT1A10 transcript NM_019075.2: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_019076.4: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_019077.2: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_021027.2:c. N/A Intron Variant
Gene: UGT1A6, UDP glucuronosyltransferase family 1 member A6 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
UGT1A6 transcript variant 2 NM_205862.1:c. N/A Intron Variant
UGT1A6 transcript variant 1 NM_001072.3:c.541A>G T [ACA] > A [GCA] Coding Sequence Variant
UDP-glucuronosyltransferase 1-6 isoform 1 precursor NP_001063.2:p.Thr...

NP_001063.2:p.Thr181Ala

T (Thr) > A (Ala) Missense Variant
Help

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: G (allele ID: 434015 )
ClinVar Accession Disease Names Clinical Significance
RCV000507301.1 not specified Benign
Help

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
The Genome Aggregation Database Global Study-wide 246040 A=0.68721 G=0.31279
The Genome Aggregation Database European Sub 133824 A=0.65541 G=0.34459
The Genome Aggregation Database Asian Sub 48008 A=0.6731 G=0.3269
The Genome Aggregation Database American Sub 33580 A=0.8272 G=0.1728
The Genome Aggregation Database African Sub 15300 A=0.7577 G=0.2423
The Genome Aggregation Database Ashkenazi Jewish Sub 9844 A=0.602 G=0.398
The Genome Aggregation Database Other Sub 5484 A=0.685 G=0.315
Trans-Omics for Precision Medicine Global Study-wide 125568 A=0.71667 G=0.28333
The Exome Aggregation Consortium Global Study-wide 121378 A=0.68666 G=0.31334
The Exome Aggregation Consortium Europe Sub 73342 A=0.6595 G=0.3405
The Exome Aggregation Consortium Asian Sub 25150 A=0.6681 G=0.3319
The Exome Aggregation Consortium American Sub 11576 A=0.8367 G=0.1633
The Exome Aggregation Consortium African Sub 10402 A=0.7575 G=0.2425
The Exome Aggregation Consortium Other Sub 908 A=0.67 G=0.33
The Genome Aggregation Database Global Study-wide 30894 A=0.6938 G=0.3062
The Genome Aggregation Database European Sub 18458 A=0.6528 G=0.3472
The Genome Aggregation Database African Sub 8704 A=0.757 G=0.243
The Genome Aggregation Database East Asian Sub 1614 A=0.818 G=0.182
The Genome Aggregation Database Other Sub 978 A=0.62 G=0.38
The Genome Aggregation Database American Sub 838 A=0.79 G=0.21
The Genome Aggregation Database Ashkenazi Jewish Sub 302 A=0.67 G=0.33
GO Exome Sequencing Project Global Study-wide 13006 A=0.6954 G=0.3046
GO Exome Sequencing Project European American Sub 8600 A=0.668 G=0.332
GO Exome Sequencing Project African American Sub 4406 A=0.748 G=0.252
1000Genomes Global Study-wide 5008 A=0.722 G=0.278
1000Genomes African Sub 1322 A=0.761 G=0.239
1000Genomes East Asian Sub 1008 A=0.804 G=0.196
1000Genomes Europe Sub 1006 A=0.690 G=0.310
1000Genomes South Asian Sub 978 A=0.58 G=0.42
1000Genomes American Sub 694 A=0.78 G=0.22
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.671 G=0.329
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.691 G=0.309
Help

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

Placement A= G Note
GRCh38.p7 chr 2 NC_000002.12:g.233693545A= NC_000002.12:g.23369354...

NC_000002.12:g.233693545A>G

GRCh37.p13 chr 2 NC_000002.11:g.234602191A= NC_000002.11:g.23460219...

NC_000002.11:g.234602191A>G

UGT1A RefSeqGene NG_002601.2:g.108802A= NG_002601.2:g.108802A>G
UGT1A6 transcript variant 1 NM_001072.3:c.541A= NM_001072.3:c.541A>G
UDP-glucuronosyltransferase 1-6 isoform 1 precursor NP_001063.2:p.Thr181= NP_001063.2:p.Thr181Ala
Help

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#.

129 SubSNP, 1 ClinVar, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2076915 Oct 10, 2002 (123)
2 YUSUKE ss2984402 Jun 15, 2001 (96)
3 HGBASE ss3186059 Aug 15, 2001 (98)
4 TSC-CSHL ss5239097 Oct 08, 2002 (108)
5 BCM_SSAHASNP ss10002480 Jul 11, 2003 (116)
6 SSAHASNP ss21622389 Apr 05, 2004 (121)
7 PERLEGEN ss24281282 Sep 20, 2004 (123)
8 ABI ss44253150 Mar 13, 2006 (126)
9 ILLUMINA ss65726136 Oct 16, 2006 (127)
10 KRIBB_YJKIM ss65831445 Dec 02, 2006 (127)
11 ILLUMINA ss66579657 Dec 02, 2006 (127)
12 ILLUMINA ss67221996 Dec 02, 2006 (127)
13 ILLUMINA ss67616427 Dec 02, 2006 (127)
14 PERLEGEN ss68846574 May 18, 2007 (127)
15 PHARMGKB_PAAR-UCHI ss69365986 May 18, 2007 (127)
16 ILLUMINA ss70700284 May 26, 2008 (130)
17 ILLUMINA ss71266319 May 18, 2007 (127)
18 ILLUMINA ss74881554 Dec 06, 2007 (129)
19 SI_EXO ss76895567 Dec 06, 2007 (129)
20 ILLUMINA ss79112257 Dec 16, 2007 (130)
21 HGSV ss82933646 Dec 16, 2007 (130)
22 KRIBB_YJKIM ss83964363 Dec 16, 2007 (130)
23 PHARMGKB_AB_DME ss84164183 Dec 16, 2007 (130)
24 HUMANGENOME_JCVI ss97131966 Feb 06, 2009 (130)
25 1000GENOMES ss110964657 Jan 25, 2009 (130)
26 1000GENOMES ss111824391 Jan 25, 2009 (130)
27 ILLUMINA ss121908008 Dec 01, 2009 (131)
28 ENSEMBL ss135933809 Dec 01, 2009 (131)
29 ILLUMINA ss153843372 Dec 01, 2009 (131)
30 GMI ss154867911 Dec 01, 2009 (131)
31 ILLUMINA ss159355846 Dec 01, 2009 (131)
32 SEATTLESEQ ss159704038 Dec 01, 2009 (131)
33 ILLUMINA ss160497720 Dec 01, 2009 (131)
34 COMPLETE_GENOMICS ss165698108 Jul 04, 2010 (132)
35 COMPLETE_GENOMICS ss167604221 Jul 04, 2010 (132)
36 ILLUMINA ss170996989 Jul 04, 2010 (132)
37 ILLUMINA ss173095524 Jul 04, 2010 (132)
38 BUSHMAN ss201895026 Jul 04, 2010 (132)
39 BCM-HGSC-SUB ss205735047 Jul 04, 2010 (132)
40 1000GENOMES ss217318238 Jul 14, 2010 (132)
41 1000GENOMES ss217392993 Jul 14, 2010 (132)
42 1000GENOMES ss217394522 Jul 14, 2010 (132)
43 1000GENOMES ss217402528 Jul 14, 2010 (132)
44 1000GENOMES ss217410314 Jul 14, 2010 (132)
45 1000GENOMES ss217413228 Jul 14, 2010 (132)
46 1000GENOMES ss217415301 Jul 14, 2010 (132)
47 1000GENOMES ss219880829 Jul 14, 2010 (132)
48 1000GENOMES ss231635366 Jul 14, 2010 (132)
49 1000GENOMES ss239082976 Jul 15, 2010 (132)
50 ILLUMINA ss244286821 Jul 04, 2010 (132)
51 GMI ss276943943 May 04, 2012 (137)
52 PJP ss292510812 May 09, 2011 (134)
53 NHLBI-ESP ss342105332 May 09, 2011 (134)
54 ILLUMINA ss410918956 Sep 17, 2011 (135)
55 ILLUMINA ss480409887 May 04, 2012 (137)
56 ILLUMINA ss480423192 May 04, 2012 (137)
57 ILLUMINA ss481205545 Sep 08, 2015 (146)
58 ILLUMINA ss485002482 May 04, 2012 (137)
59 1000GENOMES ss489858328 May 04, 2012 (137)
60 EXOME_CHIP ss491333325 May 04, 2012 (137)
61 CLINSEQ_SNP ss491802656 May 04, 2012 (137)
62 ILLUMINA ss537033962 Sep 08, 2015 (146)
63 TISHKOFF ss556305004 Apr 25, 2013 (138)
64 SSMP ss649965833 Apr 25, 2013 (138)
65 ILLUMINA ss778698708 Sep 08, 2015 (146)
66 ILLUMINA ss780811897 Sep 08, 2015 (146)
67 ILLUMINA ss782947544 Sep 08, 2015 (146)
68 ILLUMINA ss783493802 Sep 08, 2015 (146)
69 ILLUMINA ss783909974 Sep 08, 2015 (146)
70 ILLUMINA ss825442775 Apr 01, 2015 (144)
71 ILLUMINA ss832203403 Sep 08, 2015 (146)
72 ILLUMINA ss834157599 Sep 08, 2015 (146)
73 JMKIDD_LAB ss974446268 Aug 21, 2014 (142)
74 EVA-GONL ss978087987 Aug 21, 2014 (142)
75 JMKIDD_LAB ss1067446600 Aug 21, 2014 (142)
76 JMKIDD_LAB ss1070035814 Aug 21, 2014 (142)
77 1000GENOMES ss1302132338 Aug 21, 2014 (142)
78 DDI ss1428949884 Apr 01, 2015 (144)
79 EVA_GENOME_DK ss1579373343 Apr 01, 2015 (144)
80 EVA_FINRISK ss1584024793 Apr 01, 2015 (144)
81 EVA_DECODE ss1587548150 Apr 01, 2015 (144)
82 EVA_UK10K_ALSPAC ss1606056616 Apr 01, 2015 (144)
83 EVA_UK10K_TWINSUK ss1649050649 Apr 01, 2015 (144)
84 EVA_EXAC ss1686798245 Apr 01, 2015 (144)
85 EVA_MGP ss1711001221 Apr 01, 2015 (144)
86 EVA_SVP ss1712539850 Apr 01, 2015 (144)
87 ILLUMINA ss1752345108 Sep 08, 2015 (146)
88 ILLUMINA ss1752345109 Sep 08, 2015 (146)
89 HAMMER_LAB ss1798566096 Sep 08, 2015 (146)
90 ILLUMINA ss1917761519 Feb 12, 2016 (147)
91 WEILL_CORNELL_DGM ss1921335639 Feb 12, 2016 (147)
92 ILLUMINA ss1946069963 Feb 12, 2016 (147)
93 ILLUMINA ss1958518466 Feb 12, 2016 (147)
94 JJLAB ss2021216080 Sep 14, 2016 (149)
95 USC_VALOUEV ss2149282239 Dec 20, 2016 (150)
96 HUMAN_LONGEVITY ss2240159524 Dec 20, 2016 (150)
97 TOPMED ss2406620391 Dec 20, 2016 (150)
98 SYSTEMSBIOZJU ss2625108261 Nov 08, 2017 (151)
99 ILLUMINA ss2633755271 Nov 08, 2017 (151)
100 ILLUMINA ss2633755272 Nov 08, 2017 (151)
101 GRF ss2703934884 Nov 08, 2017 (151)
102 GNOMAD ss2733430237 Nov 08, 2017 (151)
103 GNOMAD ss2746909551 Nov 08, 2017 (151)
104 GNOMAD ss2787706072 Nov 08, 2017 (151)
105 AFFY ss2985203882 Nov 08, 2017 (151)
106 AFFY ss2985825097 Nov 08, 2017 (151)
107 SWEGEN ss2991557500 Nov 08, 2017 (151)
108 ILLUMINA ss3022083010 Nov 08, 2017 (151)
109 EVA_SAMSUNG_MC ss3023058982 Nov 08, 2017 (151)
110 BIOINF_KMB_FNS_UNIBA ss3024368216 Nov 08, 2017 (151)
111 TOPMED ss3341568313 Nov 08, 2017 (151)
112 CSHL ss3344798236 Nov 08, 2017 (151)
113 ILLUMINA ss3628314016 Jul 19, 2018 (151)
114 ILLUMINA ss3628314017 Jul 19, 2018 (151)
115 ILLUMINA ss3631714489 Jul 19, 2018 (151)
116 ILLUMINA ss3633238460 Jul 19, 2018 (151)
117 ILLUMINA ss3633951851 Jul 19, 2018 (151)
118 ILLUMINA ss3634818104 Jul 19, 2018 (151)
119 ILLUMINA ss3634818105 Jul 19, 2018 (151)
120 ILLUMINA ss3635637206 Jul 19, 2018 (151)
121 ILLUMINA ss3636508189 Jul 19, 2018 (151)
122 ILLUMINA ss3637389239 Jul 19, 2018 (151)
123 ILLUMINA ss3638325544 Jul 19, 2018 (151)
124 ILLUMINA ss3639166145 Jul 19, 2018 (151)
125 ILLUMINA ss3639596746 Jul 19, 2018 (151)
126 ILLUMINA ss3640525403 Jul 19, 2018 (151)
127 ILLUMINA ss3640525404 Jul 19, 2018 (151)
128 ILLUMINA ss3643289736 Jul 19, 2018 (151)
129 ILLUMINA ss3644772670 Jul 19, 2018 (151)
130 1000Genomes NC_000002.11 - 234602191 Jul 19, 2018 (151)
131 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 234602191 Jul 19, 2018 (151)
132 The Exome Aggregation Consortium NC_000002.11 - 234602191 Jul 19, 2018 (151)
133 The Genome Aggregation Database NC_000002.11 - 234602191 Jul 19, 2018 (151)
134 The Genome Aggregation Database NC_000002.11 - 234602191 Jul 19, 2018 (151)
135 GO Exome Sequencing Project NC_000002.11 - 234602191 Jul 19, 2018 (151)
136 Trans-Omics for Precision Medicine NC_000002.12 - 233693545 Jul 19, 2018 (151)
137 UK 10K study - Twins NC_000002.11 - 234602191 Jul 19, 2018 (151)
138 ClinVar RCV000507301.1 Jul 19, 2018 (151)
Help

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)
rs3903007 Sep 24, 2004 (123)
rs17683988 Oct 07, 2004 (123)
rs61246460 May 26, 2008 (130)
rs386556316 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss82933646, ss3639166145, ss3639596746 NC_000002.9:234384190:A= NC_000002.12:233693544:A= (self)
ss110964657, ss111824391, ss165698108, ss167604221, ss201895026, ss205735047, ss217318238, ss217392993, ss217394522, ss217402528, ss217410314, ss217413228, ss217415301, ss276943943, ss292510812, ss480409887, ss491802656, ss825442775, ss1587548150, ss1712539850, ss3643289736 NC_000002.10:234266929:A= NC_000002.12:233693544:A= (self)
13255415, 7341819, 6707670, 117195933, 2444972, 327061, 7341819, ss219880829, ss231635366, ss239082976, ss342105332, ss480423192, ss481205545, ss485002482, ss489858328, ss491333325, ss537033962, ss556305004, ss649965833, ss778698708, ss780811897, ss782947544, ss783493802, ss783909974, ss832203403, ss834157599, ss974446268, ss978087987, ss1067446600, ss1070035814, ss1302132338, ss1428949884, ss1579373343, ss1584024793, ss1606056616, ss1649050649, ss1686798245, ss1711001221, ss1752345108, ss1752345109, ss1798566096, ss1917761519, ss1921335639, ss1946069963, ss1958518466, ss2021216080, ss2149282239, ss2406620391, ss2625108261, ss2633755271, ss2633755272, ss2703934884, ss2733430237, ss2746909551, ss2787706072, ss2985203882, ss2985825097, ss2991557500, ss3022083010, ss3023058982, ss3344798236, ss3628314016, ss3628314017, ss3631714489, ss3633238460, ss3633951851, ss3634818104, ss3634818105, ss3635637206, ss3636508189, ss3637389239, ss3638325544, ss3640525403, ss3640525404, ss3644772670 NC_000002.11:234602190:A= NC_000002.12:233693544:A= (self)
220138825, ss2240159524, ss3024368216, ss3341568313 NC_000002.12:233693544:A= NC_000002.12:233693544:A= (self)
ss10002480 NT_005120.13:532724:A= NC_000002.12:233693544:A= (self)
ss21622389 NT_005120.14:532724:A= NC_000002.12:233693544:A= (self)
ss76895567 NT_005120.15:534944:A= NC_000002.12:233693544:A= (self)
ss2076915, ss2984402, ss3186059, ss5239097, ss24281282, ss44253150, ss65726136, ss65831445, ss66579657, ss67221996, ss67616427, ss68846574, ss69365986, ss70700284, ss71266319, ss74881554, ss79112257, ss83964363, ss84164183, ss97131966, ss121908008, ss135933809, ss153843372, ss154867911, ss159355846, ss159704038, ss160497720, ss170996989, ss173095524, ss244286821, ss410918956 NT_005120.16:548449:A= NC_000002.12:233693544:A= (self)
ss82933646, ss3639166145, ss3639596746 NC_000002.9:234384190:A>G NC_000002.12:233693544:A>G (self)
ss110964657, ss111824391, ss165698108, ss167604221, ss201895026, ss205735047, ss217318238, ss217392993, ss217394522, ss217402528, ss217410314, ss217413228, ss217415301, ss276943943, ss292510812, ss480409887, ss491802656, ss825442775, ss1587548150, ss1712539850, ss3643289736 NC_000002.10:234266929:A>G NC_000002.12:233693544:A>G (self)
13255415, 7341819, 6707670, 117195933, 2444972, 327061, 7341819, ss219880829, ss231635366, ss239082976, ss342105332, ss480423192, ss481205545, ss485002482, ss489858328, ss491333325, ss537033962, ss556305004, ss649965833, ss778698708, ss780811897, ss782947544, ss783493802, ss783909974, ss832203403, ss834157599, ss974446268, ss978087987, ss1067446600, ss1070035814, ss1302132338, ss1428949884, ss1579373343, ss1584024793, ss1606056616, ss1649050649, ss1686798245, ss1711001221, ss1752345108, ss1752345109, ss1798566096, ss1917761519, ss1921335639, ss1946069963, ss1958518466, ss2021216080, ss2149282239, ss2406620391, ss2625108261, ss2633755271, ss2633755272, ss2703934884, ss2733430237, ss2746909551, ss2787706072, ss2985203882, ss2985825097, ss2991557500, ss3022083010, ss3023058982, ss3344798236, ss3628314016, ss3628314017, ss3631714489, ss3633238460, ss3633951851, ss3634818104, ss3634818105, ss3635637206, ss3636508189, ss3637389239, ss3638325544, ss3640525403, ss3640525404, ss3644772670 NC_000002.11:234602190:A>G NC_000002.12:233693544:A>G (self)
RCV000507301.1, 220138825, ss2240159524, ss3024368216, ss3341568313 NC_000002.12:233693544:A>G NC_000002.12:233693544:A>G (self)
ss10002480 NT_005120.13:532724:A>G NC_000002.12:233693544:A>G (self)
ss21622389 NT_005120.14:532724:A>G NC_000002.12:233693544:A>G (self)
ss76895567 NT_005120.15:534944:A>G NC_000002.12:233693544:A>G (self)
ss2076915, ss2984402, ss3186059, ss5239097, ss24281282, ss44253150, ss65726136, ss65831445, ss66579657, ss67221996, ss67616427, ss68846574, ss69365986, ss70700284, ss71266319, ss74881554, ss79112257, ss83964363, ss84164183, ss97131966, ss121908008, ss135933809, ss153843372, ss154867911, ss159355846, ss159704038, ss160497720, ss170996989, ss173095524, ss244286821, ss410918956 NT_005120.16:548449:A>G NC_000002.12:233693544:A>G (self)
Help

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

27 citations for rs2070959
PMID Title Author Year Journal
18349273 UGT1A1 genetic polymorphisms, endogenous estrogen exposure, soy food intake, and endometrial cancer risk. Deming SL et al. 2008 Cancer epidemiology, biomarkers & prevention
18992148 Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study. Küry S et al. 2008 BMC cancer
18992263 Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways. Slattery ML et al. 2009 Mutation research
19223558 Polymorphic variation in NFKB1 and other aspirin-related genes and risk of Hodgkin lymphoma. Chang ET et al. 2009 Cancer epidemiology, biomarkers & prevention
19415281 Pharmacokinetic analysis of irinotecan plus bevacizumab in patients with advanced solid tumors. Denlinger CS et al. 2009 Cancer chemotherapy and pharmacology
19437564 No association between cyclooxygenase-2 and uridine diphosphate glucuronosyltransferase 1A6 genetic polymorphisms and colon cancer risk. Thompson CL et al. 2009 World journal of gastroenterology
20214591 Pharmacogenomics in aspirin intolerance. Agúndez JA et al. 2009 Current drug metabolism
20463881 Digital quantification of human eye color highlights genetic association of three new loci. Liu F et al. 2010 PLoS genetics
21532843 Interaction between use of non-steroidal anti-inflammatory drugs and selected genetic polymorphisms in ovarian cancer risk. Pinheiro SP et al. 2010 International journal of molecular epidemiology and genetics
21666065 UGT1A6 and UGT2B15 polymorphisms and acetaminophen conjugation in response to a randomized, controlled diet of select fruits and vegetables. Navarro SL et al. 2011 Drug metabolism and disposition
22006096 Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver. Schröder A et al. 2013 The pharmacogenomics journal
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
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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.

Software version is: 0.1.4.post833+d3ba21e