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dbSNP Short Genetic Variations

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.

rs11045818

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:21176827 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.107771 (28526/264690, TOPMED)
A=0.111431 (27884/250236, GnomAD_exome)
A=0.149084 (32370/217126, ALFA) (+ 23 more)
A=0.111117 (15562/140050, GnomAD)
A=0.112778 (13641/120954, ExAC)
A=0.05921 (4660/78700, PAGE_STUDY)
A=0.12147 (1574/12958, GO-ESP)
A=0.0531 (340/6404, 1000G_30x)
A=0.0517 (259/5008, 1000G)
A=0.0949 (425/4480, Estonian)
A=0.1578 (608/3854, ALSPAC)
A=0.1688 (626/3708, TWINSUK)
A=0.0529 (171/3234, PRJNA289433)
A=0.0003 (1/2922, KOREAN)
A=0.1324 (197/1488, PharmGKB)
A=0.0666 (91/1366, HapMap)
A=0.184 (184/998, GoNL)
A=0.089 (56/626, Chileans)
A=0.143 (86/600, NorthernSweden)
A=0.103 (55/534, MGP)
A=0.066 (20/304, FINRISK)
A=0.051 (11/216, Qatari)
G=0.48 (21/44, SGDP_PRJ)
A=0.10 (4/40, GENOME_DK)
A=0.16 (6/38, Ancient Sardinia)
G=0.4 (3/8, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SLCO1B1 : Synonymous Variant
Publications
4 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 238300 G=0.853584 A=0.146416 0.730575 0.023407 0.246018 16
European Sub 194012 G=0.837773 A=0.162227 0.701977 0.026431 0.271591 0
African Sub 16378 G=0.96251 A=0.03749 0.927219 0.002198 0.070582 3
African Others Sub 600 G=0.983 A=0.017 0.966667 0.0 0.033333 0
African American Sub 15778 G=0.96172 A=0.03828 0.925719 0.002282 0.071999 3
Asian Sub 3476 G=0.9997 A=0.0003 0.999425 0.0 0.000575 0
East Asian Sub 2778 G=0.9996 A=0.0004 0.99928 0.0 0.00072 0
Other Asian Sub 698 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 1 Sub 1356 G=0.8916 A=0.1084 0.79646 0.013274 0.190265 0
Latin American 2 Sub 7238 G=0.9282 A=0.0718 0.861288 0.004974 0.133739 0
South Asian Sub 334 G=0.937 A=0.063 0.886228 0.011976 0.101796 2
Other Sub 15506 G=0.86367 A=0.13633 0.75029 0.022959 0.226751 6


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
TopMed Global Study-wide 264690 G=0.892229 A=0.107771
gnomAD - Exomes Global Study-wide 250236 G=0.888569 A=0.111431
gnomAD - Exomes European Sub 134454 G=0.845129 A=0.154871
gnomAD - Exomes Asian Sub 48958 G=0.97281 A=0.02719
gnomAD - Exomes American Sub 34520 G=0.93172 A=0.06828
gnomAD - Exomes African Sub 16186 G=0.96454 A=0.03546
gnomAD - Exomes Ashkenazi Jewish Sub 10038 G=0.79966 A=0.20034
gnomAD - Exomes Other Sub 6080 G=0.8704 A=0.1296
Allele Frequency Aggregator Total Global 217126 G=0.850916 A=0.149084
Allele Frequency Aggregator European Sub 181002 G=0.837355 A=0.162645
Allele Frequency Aggregator Other Sub 13290 G=0.86305 A=0.13695
Allele Frequency Aggregator African Sub 10430 G=0.95954 A=0.04046
Allele Frequency Aggregator Latin American 2 Sub 7238 G=0.9282 A=0.0718
Allele Frequency Aggregator Asian Sub 3476 G=0.9997 A=0.0003
Allele Frequency Aggregator Latin American 1 Sub 1356 G=0.8916 A=0.1084
Allele Frequency Aggregator South Asian Sub 334 G=0.937 A=0.063
gnomAD - Genomes Global Study-wide 140050 G=0.888883 A=0.111117
gnomAD - Genomes European Sub 75826 G=0.84557 A=0.15443
gnomAD - Genomes African Sub 42002 G=0.96184 A=0.03816
gnomAD - Genomes American Sub 13624 G=0.90238 A=0.09762
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.7881 A=0.2119
gnomAD - Genomes East Asian Sub 3128 G=0.9987 A=0.0013
gnomAD - Genomes Other Sub 2148 G=0.9018 A=0.0982
ExAC Global Study-wide 120954 G=0.887222 A=0.112778
ExAC Europe Sub 73100 G=0.83918 A=0.16082
ExAC Asian Sub 25142 G=0.97100 A=0.02900
ExAC American Sub 11516 G=0.94043 A=0.05957
ExAC African Sub 10296 G=0.96329 A=0.03671
ExAC Other Sub 900 G=0.898 A=0.102
The PAGE Study Global Study-wide 78700 G=0.94079 A=0.05921
The PAGE Study AfricanAmerican Sub 32516 G=0.95793 A=0.04207
The PAGE Study Mexican Sub 10810 G=0.92498 A=0.07502
The PAGE Study Asian Sub 8318 G=0.9986 A=0.0014
The PAGE Study PuertoRican Sub 7918 G=0.8974 A=0.1026
The PAGE Study NativeHawaiian Sub 4532 G=0.9521 A=0.0479
The PAGE Study Cuban Sub 4230 G=0.8674 A=0.1326
The PAGE Study Dominican Sub 3828 G=0.9013 A=0.0987
The PAGE Study CentralAmerican Sub 2450 G=0.9327 A=0.0673
The PAGE Study SouthAmerican Sub 1982 G=0.9142 A=0.0858
The PAGE Study NativeAmerican Sub 1260 G=0.8976 A=0.1024
The PAGE Study SouthAsian Sub 856 G=0.957 A=0.043
GO Exome Sequencing Project Global Study-wide 12958 G=0.87853 A=0.12147
GO Exome Sequencing Project European American Sub 8558 G=0.8378 A=0.1622
GO Exome Sequencing Project African American Sub 4400 G=0.9577 A=0.0423
1000Genomes_30x Global Study-wide 6404 G=0.9469 A=0.0531
1000Genomes_30x African Sub 1786 G=0.9866 A=0.0134
1000Genomes_30x Europe Sub 1266 G=0.8499 A=0.1501
1000Genomes_30x South Asian Sub 1202 G=0.9700 A=0.0300
1000Genomes_30x East Asian Sub 1170 G=0.9974 A=0.0026
1000Genomes_30x American Sub 980 G=0.911 A=0.089
1000Genomes Global Study-wide 5008 G=0.9483 A=0.0517
1000Genomes African Sub 1322 G=0.9864 A=0.0136
1000Genomes East Asian Sub 1008 G=0.9970 A=0.0030
1000Genomes Europe Sub 1006 G=0.8559 A=0.1441
1000Genomes South Asian Sub 978 G=0.968 A=0.032
1000Genomes American Sub 694 G=0.911 A=0.089
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9051 A=0.0949
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8422 A=0.1578
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8312 A=0.1688
MxGDAR/Encodat-PGx Global Study-wide 3234 G=0.9471 A=0.0529
MxGDAR/Encodat-PGx MxGDAR Sub 3234 G=0.9471 A=0.0529
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9997 A=0.0003
PharmGKB Aggregated Global Study-wide 1488 G=0.8676 A=0.1324
PharmGKB Aggregated PA165066480 Sub 1400 G=0.8686 A=0.1314
PharmGKB Aggregated PA142898898 Sub 88 G=0.85 A=0.15
HapMap Global Study-wide 1366 G=0.9334 A=0.0666
HapMap American Sub 596 G=0.896 A=0.104
HapMap African Sub 508 G=0.988 A=0.012
HapMap Europe Sub 174 G=0.868 A=0.132
HapMap Asian Sub 88 G=1.00 A=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.816 A=0.184
Chileans Chilean Study-wide 626 G=0.911 A=0.089
Northern Sweden ACPOP Study-wide 600 G=0.857 A=0.143
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.897 A=0.103
FINRISK Finnish from FINRISK project Study-wide 304 G=0.934 A=0.066
Qatari Global Study-wide 216 G=0.949 A=0.051
SGDP_PRJ Global Study-wide 44 G=0.48 A=0.52
The Danish reference pan genome Danish Study-wide 40 G=0.90 A=0.10
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 38 G=0.84 A=0.16
Siberian Global Study-wide 8 G=0.4 A=0.6
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.p14 chr 12 NC_000012.12:g.21176827G>A
GRCh37.p13 chr 12 NC_000012.11:g.21329761G>A
SLCO1B1 RefSeqGene (LRG_1022) NG_011745.1:g.50634G>A
Gene: SLCO1B1, solute carrier organic anion transporter family member 1B1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SLCO1B1 transcript NM_006446.5:c.411G>A S [TCG] > S [TCA] Coding Sequence Variant
solute carrier organic anion transporter family member 1B1 NP_006437.3:p.Ser137= S (Ser) > S (Ser) Synonymous 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: A (allele ID: 330068 )
ClinVar Accession Disease Names Clinical Significance
RCV000310218.9 Rotor syndrome Benign
RCV001535078.2 not provided Benign
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 G= A
GRCh38.p14 chr 12 NC_000012.12:g.21176827= NC_000012.12:g.21176827G>A
GRCh37.p13 chr 12 NC_000012.11:g.21329761= NC_000012.11:g.21329761G>A
SLCO1B1 RefSeqGene (LRG_1022) NG_011745.1:g.50634= NG_011745.1:g.50634G>A
SLCO1B1 transcript NM_006446.5:c.411= NM_006446.5:c.411G>A
SLCO1B1 transcript NM_006446.4:c.411= NM_006446.4:c.411G>A
solute carrier organic anion transporter family member 1B1 NP_006437.3:p.Ser137= NP_006437.3:p.Ser137=
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#.

113 SubSNP, 26 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15510703 Feb 27, 2004 (120)
2 SC_SNP ss18962592 Feb 27, 2004 (120)
3 PERLEGEN ss24436880 Sep 20, 2004 (123)
4 AFFY ss66120109 Nov 30, 2006 (127)
5 PHARMGKB_PAAR-SJCRH ss69368414 May 17, 2007 (127)
6 ILLUMINA ss75072445 Dec 07, 2007 (129)
7 AFFY ss76112317 Dec 07, 2007 (129)
8 KRIBB_YJKIM ss82836254 Dec 14, 2007 (130)
9 HUMANGENOME_JCVI ss97292835 Feb 05, 2009 (130)
10 CNG ss98335762 Feb 05, 2009 (130)
11 PMT ss120239922 Dec 01, 2009 (131)
12 ENSEMBL ss139904495 Dec 01, 2009 (131)
13 ILLUMINA ss159951228 Dec 01, 2009 (131)
14 PHARMGKB_PAAR-UCHI ss161109945 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss170546294 Jul 04, 2010 (132)
16 ILLUMINA ss170955789 Jul 04, 2010 (132)
17 AFFY ss172543619 Jul 04, 2010 (132)
18 1000GENOMES ss225644844 Jul 14, 2010 (132)
19 1000GENOMES ss235854348 Jul 15, 2010 (132)
20 GMI ss286521387 Apr 25, 2013 (138)
21 PJP ss291397128 May 09, 2011 (134)
22 NHLBI-ESP ss342351440 May 09, 2011 (134)
23 ILLUMINA ss479446220 May 04, 2012 (137)
24 ILLUMINA ss479870941 Sep 08, 2015 (146)
25 1000GENOMES ss491038265 May 04, 2012 (137)
26 CLINSEQ_SNP ss491661692 May 04, 2012 (137)
27 ILLUMINA ss533193078 Sep 08, 2015 (146)
28 ILLUMINA ss831958386 Sep 08, 2015 (146)
29 EVA-GONL ss989317036 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1067532205 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1078305414 Aug 21, 2014 (142)
32 1000GENOMES ss1344205389 Aug 21, 2014 (142)
33 EVA_GENOME_DK ss1576155892 Apr 01, 2015 (144)
34 EVA_FINRISK ss1584080710 Apr 01, 2015 (144)
35 EVA_DECODE ss1598989754 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1628166958 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1671160991 Apr 01, 2015 (144)
38 EVA_EXAC ss1690819628 Apr 01, 2015 (144)
39 EVA_MGP ss1711323285 Apr 01, 2015 (144)
40 EVA_SVP ss1713312648 Apr 01, 2015 (144)
41 ILLUMINA ss1752059971 Sep 08, 2015 (146)
42 WEILL_CORNELL_DGM ss1932681507 Feb 12, 2016 (147)
43 ILLUMINA ss1946333525 Feb 12, 2016 (147)
44 ILLUMINA ss1959419463 Feb 12, 2016 (147)
45 JJLAB ss2027088108 Sep 14, 2016 (149)
46 ILLUMINA ss2095032089 Dec 20, 2016 (150)
47 USC_VALOUEV ss2155413860 Dec 20, 2016 (150)
48 HUMAN_LONGEVITY ss2188375161 Dec 20, 2016 (150)
49 ILLUMINA ss2632934595 Nov 08, 2017 (151)
50 ILLUMINA ss2632934596 Nov 08, 2017 (151)
51 ILLUMINA ss2710756083 Nov 08, 2017 (151)
52 GNOMAD ss2739675621 Nov 08, 2017 (151)
53 GNOMAD ss2748826217 Nov 08, 2017 (151)
54 GNOMAD ss2908174490 Nov 08, 2017 (151)
55 AFFY ss2985612465 Nov 08, 2017 (151)
56 SWEGEN ss3009330228 Nov 08, 2017 (151)
57 ILLUMINA ss3021413006 Nov 08, 2017 (151)
58 BIOINF_KMB_FNS_UNIBA ss3027350321 Nov 08, 2017 (151)
59 CSHL ss3349960640 Nov 08, 2017 (151)
60 ILLUMINA ss3625617350 Oct 12, 2018 (152)
61 ILLUMINA ss3626833355 Oct 12, 2018 (152)
62 ILLUMINA ss3633013281 Oct 12, 2018 (152)
63 ILLUMINA ss3633713883 Oct 12, 2018 (152)
64 ILLUMINA ss3634494915 Oct 12, 2018 (152)
65 ILLUMINA ss3635404856 Oct 12, 2018 (152)
66 ILLUMINA ss3636179225 Oct 12, 2018 (152)
67 ILLUMINA ss3637155814 Oct 12, 2018 (152)
68 ILLUMINA ss3637951501 Oct 12, 2018 (152)
69 ILLUMINA ss3640202248 Oct 12, 2018 (152)
70 ILLUMINA ss3642946070 Oct 12, 2018 (152)
71 ILLUMINA ss3644586485 Oct 12, 2018 (152)
72 OMUKHERJEE_ADBS ss3646439195 Oct 12, 2018 (152)
73 URBANLAB ss3649786496 Oct 12, 2018 (152)
74 ILLUMINA ss3651787125 Oct 12, 2018 (152)
75 ILLUMINA ss3651787126 Oct 12, 2018 (152)
76 EGCUT_WGS ss3676645998 Jul 13, 2019 (153)
77 EVA_DECODE ss3693259733 Jul 13, 2019 (153)
78 ACPOP ss3738837088 Jul 13, 2019 (153)
79 ILLUMINA ss3744096292 Jul 13, 2019 (153)
80 ILLUMINA ss3744795628 Jul 13, 2019 (153)
81 EVA ss3750230587 Jul 13, 2019 (153)
82 PAGE_CC ss3771679143 Jul 13, 2019 (153)
83 ILLUMINA ss3772295152 Jul 13, 2019 (153)
84 KHV_HUMAN_GENOMES ss3815548195 Jul 13, 2019 (153)
85 EVA ss3824711157 Apr 26, 2020 (154)
86 EVA ss3825817687 Apr 26, 2020 (154)
87 EVA ss3833014590 Apr 26, 2020 (154)
88 SGDP_PRJ ss3877844634 Apr 26, 2020 (154)
89 KRGDB ss3926377256 Apr 26, 2020 (154)
90 FSA-LAB ss3984023419 Apr 26, 2021 (155)
91 EVA ss3984449714 Apr 26, 2021 (155)
92 EVA ss3985579644 Apr 26, 2021 (155)
93 EVA ss3986562203 Apr 26, 2021 (155)
94 EVA ss4017578094 Apr 26, 2021 (155)
95 TOPMED ss4911206323 Apr 26, 2021 (155)
96 EVA ss5237219028 Apr 26, 2021 (155)
97 EVA ss5237659606 Oct 13, 2022 (156)
98 1000G_HIGH_COVERAGE ss5290064482 Oct 13, 2022 (156)
99 EVA ss5314391658 Oct 13, 2022 (156)
100 TRAN_CS_UWATERLOO ss5314434914 Oct 13, 2022 (156)
101 HUGCELL_USP ss5484924544 Oct 13, 2022 (156)
102 EVA ss5510619765 Oct 13, 2022 (156)
103 EVA ss5512473920 Oct 13, 2022 (156)
104 1000G_HIGH_COVERAGE ss5587120828 Oct 13, 2022 (156)
105 SANFORD_IMAGENETICS ss5652739652 Oct 13, 2022 (156)
106 EVA ss5799866319 Oct 13, 2022 (156)
107 EVA ss5800064723 Oct 13, 2022 (156)
108 EVA ss5837690625 Oct 13, 2022 (156)
109 EVA ss5847662849 Oct 13, 2022 (156)
110 EVA ss5848347704 Oct 13, 2022 (156)
111 EVA ss5903573686 Oct 13, 2022 (156)
112 EVA ss5944090220 Oct 13, 2022 (156)
113 EVA ss5980726510 Oct 13, 2022 (156)
114 1000Genomes NC_000012.11 - 21329761 Oct 12, 2018 (152)
115 1000Genomes_30x NC_000012.12 - 21176827 Oct 13, 2022 (156)
116 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 21329761 Oct 12, 2018 (152)
117 Chileans NC_000012.11 - 21329761 Apr 26, 2020 (154)
118 Genetic variation in the Estonian population NC_000012.11 - 21329761 Oct 12, 2018 (152)
119 ExAC NC_000012.11 - 21329761 Oct 12, 2018 (152)
120 FINRISK NC_000012.11 - 21329761 Apr 26, 2020 (154)
121 The Danish reference pan genome NC_000012.11 - 21329761 Apr 26, 2020 (154)
122 gnomAD - Genomes NC_000012.12 - 21176827 Apr 26, 2021 (155)
123 gnomAD - Exomes NC_000012.11 - 21329761 Jul 13, 2019 (153)
124 GO Exome Sequencing Project NC_000012.11 - 21329761 Oct 12, 2018 (152)
125 Genome of the Netherlands Release 5 NC_000012.11 - 21329761 Apr 26, 2020 (154)
126 HapMap NC_000012.12 - 21176827 Apr 26, 2020 (154)
127 KOREAN population from KRGDB NC_000012.11 - 21329761 Apr 26, 2020 (154)
128 Medical Genome Project healthy controls from Spanish population NC_000012.11 - 21329761 Apr 26, 2020 (154)
129 Northern Sweden NC_000012.11 - 21329761 Jul 13, 2019 (153)
130 The PAGE Study NC_000012.12 - 21176827 Jul 13, 2019 (153)
131 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 21329761 Apr 26, 2021 (155)
132 MxGDAR/Encodat-PGx NC_000012.11 - 21329761 Apr 26, 2021 (155)
133 PharmGKB Aggregated NC_000012.12 - 21176827 Apr 26, 2020 (154)
134 Qatari NC_000012.11 - 21329761 Apr 26, 2020 (154)
135 SGDP_PRJ NC_000012.11 - 21329761 Apr 26, 2020 (154)
136 Siberian NC_000012.11 - 21329761 Apr 26, 2020 (154)
137 TopMed NC_000012.12 - 21176827 Apr 26, 2021 (155)
138 UK 10K study - Twins NC_000012.11 - 21329761 Oct 12, 2018 (152)
139 ALFA NC_000012.12 - 21176827 Apr 26, 2021 (155)
140 ClinVar RCV000310218.9 Oct 13, 2022 (156)
141 ClinVar RCV001535078.2 Oct 13, 2022 (156)
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)
rs17330010 Oct 08, 2004 (123)
rs58004452 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66120109, ss76112317, ss170546294, ss172543619, ss286521387, ss291397128, ss491661692, ss1598989754, ss1713312648, ss3642946070 NC_000012.10:21221027:G:A NC_000012.12:21176826:G:A (self)
56923986, 31607566, 94339, 22384246, 1109569, 77171, 2875599, 8903554, 1168642, 14103381, 33554650, 439045, 12121953, 805571, 2715, 14723437, 29861614, 7930214, 31607566, ss225644844, ss235854348, ss342351440, ss479446220, ss479870941, ss491038265, ss533193078, ss831958386, ss989317036, ss1067532205, ss1078305414, ss1344205389, ss1576155892, ss1584080710, ss1628166958, ss1671160991, ss1690819628, ss1711323285, ss1752059971, ss1932681507, ss1946333525, ss1959419463, ss2027088108, ss2095032089, ss2155413860, ss2632934595, ss2632934596, ss2710756083, ss2739675621, ss2748826217, ss2908174490, ss2985612465, ss3009330228, ss3021413006, ss3349960640, ss3625617350, ss3626833355, ss3633013281, ss3633713883, ss3634494915, ss3635404856, ss3636179225, ss3637155814, ss3637951501, ss3640202248, ss3644586485, ss3646439195, ss3651787125, ss3651787126, ss3676645998, ss3738837088, ss3744096292, ss3744795628, ss3750230587, ss3772295152, ss3824711157, ss3825817687, ss3833014590, ss3877844634, ss3926377256, ss3984023419, ss3984449714, ss3985579644, ss3986562203, ss4017578094, ss5314391658, ss5510619765, ss5512473920, ss5652739652, ss5799866319, ss5800064723, ss5837690625, ss5847662849, ss5848347704, ss5944090220, ss5980726510 NC_000012.11:21329760:G:A NC_000012.12:21176826:G:A (self)
RCV000310218.9, RCV001535078.2, 74646763, 401379537, 771111, 900612, 2674, 126751980, 3083486903, ss2188375161, ss3027350321, ss3649786496, ss3693259733, ss3771679143, ss3815548195, ss4911206323, ss5237219028, ss5237659606, ss5290064482, ss5314434914, ss5484924544, ss5587120828, ss5903573686 NC_000012.12:21176826:G:A NC_000012.12:21176826:G:A (self)
ss15510703, ss18962592 NT_009714.16:14088734:G:A NC_000012.12:21176826:G:A (self)
ss24436880, ss69368414, ss75072445, ss82836254, ss97292835, ss98335762, ss120239922, ss139904495, ss159951228, ss161109945, ss170955789 NT_009714.17:14089884:G:A NC_000012.12:21176826:G:A (self)
Help

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

4 citations for rs11045818
PMID Title Author Year Journal
19901119 Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects. Treviño LR et al. 2009 Journal of clinical oncology
23233662 Genome-wide study of methotrexate clearance replicates SLCO1B1. Ramsey LB et al. 2013 Blood
23940529 Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis. Lautner-Csorba O et al. 2013 PloS one
36055153 SLCO1B1 and SLC10A1 polymorphism and plasma rifampin concentrations in patients with co-morbidity tuberculosis-diabetes mellitus in Baja California, Mexico. Perea-Jacobo R et al. 2022 Tuberculosis (Edinburgh, Scotland)
Help

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.

Software version is: 2.0.1.post820+afb47a3d