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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.

rs34671512

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:21239042 (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
A>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.053878 (14261/264690, TOPMED)
C=0.045300 (11209/247440, GnomAD_exome)
C=0.052679 (11912/226124, ALFA) (+ 22 more)
C=0.054139 (7586/140122, GnomAD)
C=0.046322 (5431/117244, ExAC)
C=0.04564 (3592/78702, PAGE_STUDY)
C=0.05845 (755/12918, GO-ESP)
C=0.0447 (286/6404, 1000G_30x)
C=0.0443 (222/5008, 1000G)
C=0.0413 (185/4476, Estonian)
C=0.0547 (211/3854, ALSPAC)
C=0.0566 (210/3708, TWINSUK)
C=0.0210 (69/3284, PRJNA289433)
C=0.0455 (50/1100, Daghestan)
C=0.045 (45/998, GoNL)
C=0.003 (2/792, PRJEB37584)
C=0.008 (5/616, Vietnamese)
C=0.022 (13/600, NorthernSweden)
C=0.036 (19/534, MGP)
C=0.023 (8/354, PharmGKB)
C=0.056 (12/216, Qatari)
C=0.05 (2/40, GENOME_DK)
A=0.47 (14/30, SGDP_PRJ)
A=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SLCO1B1 : Missense Variant
LOC124902895 : Intron Variant
Publications
3 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 226246 A=0.947318 C=0.052682 0.897545 0.002908 0.099547 0
European Sub 192044 A=0.945742 C=0.054258 0.894389 0.002906 0.102706 0
African Sub 7726 A=0.9333 C=0.0667 0.870567 0.003883 0.12555 0
African Others Sub 262 A=0.958 C=0.042 0.916031 0.0 0.083969 0
African American Sub 7464 A=0.9325 C=0.0675 0.868971 0.004019 0.12701 0
Asian Sub 6404 A=0.9994 C=0.0006 0.998751 0.0 0.001249 0
East Asian Sub 4554 A=0.9993 C=0.0007 0.998682 0.0 0.001318 0
Other Asian Sub 1850 A=0.9995 C=0.0005 0.998919 0.0 0.001081 0
Latin American 1 Sub 818 A=0.935 C=0.065 0.875306 0.00489 0.119804 0
Latin American 2 Sub 1058 A=0.9603 C=0.0397 0.920605 0.0 0.079395 1
South Asian Sub 292 A=0.959 C=0.041 0.917808 0.0 0.082192 0
Other Sub 17904 A=0.95124 C=0.04876 0.906166 0.003686 0.090147 4


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 A=0.946122 C=0.053878
gnomAD - Exomes Global Study-wide 247440 A=0.954700 C=0.045300
gnomAD - Exomes European Sub 133102 A=0.949753 C=0.050247
gnomAD - Exomes Asian Sub 48622 A=0.97154 C=0.02846
gnomAD - Exomes American Sub 34366 A=0.96447 C=0.03553
gnomAD - Exomes African Sub 15358 A=0.93391 C=0.06609
gnomAD - Exomes Ashkenazi Jewish Sub 9992 A=0.9366 C=0.0634
gnomAD - Exomes Other Sub 6000 A=0.9553 C=0.0447
Allele Frequency Aggregator Total Global 226124 A=0.947321 C=0.052679
Allele Frequency Aggregator European Sub 191940 A=0.945743 C=0.054257
Allele Frequency Aggregator Other Sub 17900 A=0.95123 C=0.04877
Allele Frequency Aggregator African Sub 7712 A=0.9334 C=0.0666
Allele Frequency Aggregator Asian Sub 6404 A=0.9994 C=0.0006
Allele Frequency Aggregator Latin American 2 Sub 1058 A=0.9603 C=0.0397
Allele Frequency Aggregator Latin American 1 Sub 818 A=0.935 C=0.065
Allele Frequency Aggregator South Asian Sub 292 A=0.959 C=0.041
gnomAD - Genomes Global Study-wide 140122 A=0.945861 C=0.054139
gnomAD - Genomes European Sub 75874 A=0.94851 C=0.05149
gnomAD - Genomes African Sub 42002 A=0.93617 C=0.06383
gnomAD - Genomes American Sub 13638 A=0.94963 C=0.05037
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9413 C=0.0587
gnomAD - Genomes East Asian Sub 3130 A=0.9987 C=0.0013
gnomAD - Genomes Other Sub 2154 A=0.9480 C=0.0520
ExAC Global Study-wide 117244 A=0.953678 C=0.046322
ExAC Europe Sub 70758 A=0.94921 C=0.05079
ExAC Asian Sub 24748 A=0.97018 C=0.02982
ExAC American Sub 11372 A=0.96650 C=0.03350
ExAC African Sub 9476 A=0.9288 C=0.0712
ExAC Other Sub 890 A=0.952 C=0.048
The PAGE Study Global Study-wide 78702 A=0.95436 C=0.04564
The PAGE Study AfricanAmerican Sub 32516 A=0.93803 C=0.06197
The PAGE Study Mexican Sub 10810 A=0.96698 C=0.03302
The PAGE Study Asian Sub 8318 A=0.9990 C=0.0010
The PAGE Study PuertoRican Sub 7918 A=0.9524 C=0.0476
The PAGE Study NativeHawaiian Sub 4534 A=0.9852 C=0.0148
The PAGE Study Cuban Sub 4230 A=0.9357 C=0.0643
The PAGE Study Dominican Sub 3828 A=0.9417 C=0.0583
The PAGE Study CentralAmerican Sub 2450 A=0.9555 C=0.0445
The PAGE Study SouthAmerican Sub 1982 A=0.9662 C=0.0338
The PAGE Study NativeAmerican Sub 1260 A=0.9619 C=0.0381
The PAGE Study SouthAsian Sub 856 A=0.943 C=0.057
GO Exome Sequencing Project Global Study-wide 12918 A=0.94155 C=0.05845
GO Exome Sequencing Project European American Sub 8558 A=0.9441 C=0.0559
GO Exome Sequencing Project African American Sub 4360 A=0.9365 C=0.0635
1000Genomes_30x Global Study-wide 6404 A=0.9553 C=0.0447
1000Genomes_30x African Sub 1786 A=0.9328 C=0.0672
1000Genomes_30x Europe Sub 1266 A=0.9455 C=0.0545
1000Genomes_30x South Asian Sub 1202 A=0.9584 C=0.0416
1000Genomes_30x East Asian Sub 1170 A=0.9957 C=0.0043
1000Genomes_30x American Sub 980 A=0.957 C=0.043
1000Genomes Global Study-wide 5008 A=0.9557 C=0.0443
1000Genomes African Sub 1322 A=0.9349 C=0.0651
1000Genomes East Asian Sub 1008 A=0.9950 C=0.0050
1000Genomes Europe Sub 1006 A=0.9483 C=0.0517
1000Genomes South Asian Sub 978 A=0.951 C=0.049
1000Genomes American Sub 694 A=0.955 C=0.045
Genetic variation in the Estonian population Estonian Study-wide 4476 A=0.9587 C=0.0413
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9453 C=0.0547
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9434 C=0.0566
MxGDAR/Encodat-PGx Global Study-wide 3284 A=0.9790 C=0.0210
MxGDAR/Encodat-PGx MxGDAR Sub 3284 A=0.9790 C=0.0210
Genome-wide autozygosity in Daghestan Global Study-wide 1100 A=0.9545 C=0.0455
Genome-wide autozygosity in Daghestan Daghestan Sub 610 A=0.948 C=0.052
Genome-wide autozygosity in Daghestan Near_East Sub 138 A=0.986 C=0.014
Genome-wide autozygosity in Daghestan Central Asia Sub 116 A=0.983 C=0.017
Genome-wide autozygosity in Daghestan Europe Sub 102 A=0.922 C=0.078
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.94 C=0.06
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=1.00 C=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.955 C=0.045
CNV burdens in cranial meningiomas Global Study-wide 792 A=0.997 C=0.003
CNV burdens in cranial meningiomas CRM Sub 792 A=0.997 C=0.003
A Vietnamese Genetic Variation Database Global Study-wide 616 A=0.992 C=0.008
Northern Sweden ACPOP Study-wide 600 A=0.978 C=0.022
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.964 C=0.036
PharmGKB Aggregated Global Study-wide 354 A=0.977 C=0.023
PharmGKB Aggregated PA148413897 Sub 354 A=0.977 C=0.023
Qatari Global Study-wide 216 A=0.944 C=0.056
The Danish reference pan genome Danish Study-wide 40 A=0.95 C=0.05
SGDP_PRJ Global Study-wide 30 A=0.47 C=0.53
Siberian Global Study-wide 4 A=0.5 C=0.5
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.21239042A>C
GRCh37.p13 chr 12 NC_000012.11:g.21391976A>C
SLCO1B1 RefSeqGene (LRG_1022) NG_011745.1:g.112849A>C
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.1929A>C L [TTA] > F [TTC] Coding Sequence Variant
solute carrier organic anion transporter family member 1B1 NP_006437.3:p.Leu643Phe L (Leu) > F (Phe) Missense Variant
Gene: LOC124902895, uncharacterized LOC124902895 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124902895 transcript XR_007063239.1:n. N/A Intron 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: C (allele ID: 331512 )
ClinVar Accession Disease Names Clinical Significance
RCV000321358.9 Rotor syndrome Benign
RCV001723891.1 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 A= C
GRCh38.p14 chr 12 NC_000012.12:g.21239042= NC_000012.12:g.21239042A>C
GRCh37.p13 chr 12 NC_000012.11:g.21391976= NC_000012.11:g.21391976A>C
SLCO1B1 RefSeqGene (LRG_1022) NG_011745.1:g.112849= NG_011745.1:g.112849A>C
SLCO1B1 transcript NM_006446.5:c.1929= NM_006446.5:c.1929A>C
SLCO1B1 transcript NM_006446.4:c.1929= NM_006446.4:c.1929A>C
solute carrier organic anion transporter family member 1B1 NP_006437.3:p.Leu643= NP_006437.3:p.Leu643Phe
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#.

101 SubSNP, 24 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 APPLERA_GI ss48422820 Mar 14, 2006 (126)
2 PERLEGEN ss69103293 May 18, 2007 (127)
3 PHARMGKB_AB_DME ss84165356 Dec 16, 2007 (130)
4 CNG ss98335542 Feb 06, 2009 (130)
5 SNP500CANCER ss105440262 Feb 06, 2009 (130)
6 PMT ss120239965 Dec 01, 2009 (131)
7 1000GENOMES ss225645185 Jul 14, 2010 (132)
8 1000GENOMES ss235854602 Jul 15, 2010 (132)
9 NHLBI-ESP ss342351485 May 09, 2011 (134)
10 ILLUMINA ss483039603 May 04, 2012 (137)
11 ILLUMINA ss483746302 May 04, 2012 (137)
12 1000GENOMES ss491038306 May 04, 2012 (137)
13 EXOME_CHIP ss491465355 May 04, 2012 (137)
14 ILLUMINA ss535946207 Sep 08, 2015 (146)
15 SSMP ss658576100 Apr 25, 2013 (138)
16 ILLUMINA ss779515580 Sep 08, 2015 (146)
17 ILLUMINA ss780908773 Sep 08, 2015 (146)
18 ILLUMINA ss782316711 Sep 08, 2015 (146)
19 ILLUMINA ss783596245 Sep 08, 2015 (146)
20 ILLUMINA ss834985998 Sep 08, 2015 (146)
21 EVA-GONL ss989317577 Aug 21, 2014 (142)
22 JMKIDD_LAB ss1078305824 Aug 21, 2014 (142)
23 1000GENOMES ss1344207289 Aug 21, 2014 (142)
24 HAMMER_LAB ss1397628281 Sep 08, 2015 (146)
25 EVA_GENOME_DK ss1576156204 Apr 01, 2015 (144)
26 EVA_DECODE ss1598990250 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1628167931 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1671161964 Apr 01, 2015 (144)
29 EVA_EXAC ss1690820109 Apr 01, 2015 (144)
30 EVA_MGP ss1711323342 Apr 01, 2015 (144)
31 ILLUMINA ss1752060081 Sep 08, 2015 (146)
32 HAMMER_LAB ss1807153243 Sep 08, 2015 (146)
33 ILLUMINA ss1917871603 Feb 12, 2016 (147)
34 WEILL_CORNELL_DGM ss1932682108 Feb 12, 2016 (147)
35 ILLUMINA ss1946333571 Feb 12, 2016 (147)
36 ILLUMINA ss1959419567 Feb 12, 2016 (147)
37 JJLAB ss2027088417 Sep 14, 2016 (149)
38 ILLUMINA ss2095032157 Dec 20, 2016 (150)
39 USC_VALOUEV ss2155414189 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2188378580 Dec 20, 2016 (150)
41 ILLUMINA ss2632934735 Nov 08, 2017 (151)
42 ILLUMINA ss2632934736 Nov 08, 2017 (151)
43 ILLUMINA ss2632934737 Nov 08, 2017 (151)
44 ILLUMINA ss2710756147 Nov 08, 2017 (151)
45 GNOMAD ss2739676313 Nov 08, 2017 (151)
46 GNOMAD ss2748826425 Nov 08, 2017 (151)
47 GNOMAD ss2908179811 Nov 08, 2017 (151)
48 AFFY ss2984969957 Nov 08, 2017 (151)
49 SWEGEN ss3009331092 Nov 08, 2017 (151)
50 ILLUMINA ss3021413103 Nov 08, 2017 (151)
51 CSIRBIOHTS ss3029638282 Nov 08, 2017 (151)
52 CSHL ss3349960957 Nov 08, 2017 (151)
53 ILLUMINA ss3626833526 Oct 12, 2018 (152)
54 ILLUMINA ss3626833527 Oct 12, 2018 (152)
55 ILLUMINA ss3630945874 Oct 12, 2018 (152)
56 ILLUMINA ss3634495022 Oct 12, 2018 (152)
57 ILLUMINA ss3640202355 Oct 12, 2018 (152)
58 ILLUMINA ss3644586529 Oct 12, 2018 (152)
59 BIOINF_KMB_FNS_UNIBA ss3645240570 Oct 12, 2018 (152)
60 OMUKHERJEE_ADBS ss3646439213 Oct 12, 2018 (152)
61 ILLUMINA ss3651787278 Oct 12, 2018 (152)
62 ILLUMINA ss3651787279 Oct 12, 2018 (152)
63 ILLUMINA ss3653742508 Oct 12, 2018 (152)
64 EGCUT_WGS ss3676646847 Jul 13, 2019 (153)
65 EVA_DECODE ss3693260712 Jul 13, 2019 (153)
66 ILLUMINA ss3725309358 Jul 13, 2019 (153)
67 ACPOP ss3738837562 Jul 13, 2019 (153)
68 ILLUMINA ss3744392926 Jul 13, 2019 (153)
69 ILLUMINA ss3744795735 Jul 13, 2019 (153)
70 PAGE_CC ss3771679215 Jul 13, 2019 (153)
71 ILLUMINA ss3772295258 Jul 13, 2019 (153)
72 KHV_HUMAN_GENOMES ss3815548952 Jul 13, 2019 (153)
73 EVA ss3824711317 Apr 26, 2020 (154)
74 EVA ss3825817709 Apr 26, 2020 (154)
75 EVA ss3833014876 Apr 26, 2020 (154)
76 SGDP_PRJ ss3877845724 Apr 26, 2020 (154)
77 FSA-LAB ss3984023437 Apr 26, 2021 (155)
78 EVA ss3984449741 Apr 26, 2021 (155)
79 EVA ss3984663701 Apr 26, 2021 (155)
80 EVA ss3986562238 Apr 26, 2021 (155)
81 TOPMED ss4911221782 Apr 26, 2021 (155)
82 EVA ss5237508242 Apr 26, 2021 (155)
83 EVA ss5237659613 Oct 13, 2022 (156)
84 1000G_HIGH_COVERAGE ss5290066286 Oct 13, 2022 (156)
85 TRAN_CS_UWATERLOO ss5314434931 Oct 13, 2022 (156)
86 EVA ss5404383965 Oct 13, 2022 (156)
87 HUGCELL_USP ss5484925976 Oct 13, 2022 (156)
88 EVA ss5510620097 Oct 13, 2022 (156)
89 EVA ss5512473932 Oct 13, 2022 (156)
90 1000G_HIGH_COVERAGE ss5587123463 Oct 13, 2022 (156)
91 SANFORD_IMAGENETICS ss5624296750 Oct 13, 2022 (156)
92 SANFORD_IMAGENETICS ss5652740838 Oct 13, 2022 (156)
93 EVA ss5800175383 Oct 13, 2022 (156)
94 EVA ss5837691298 Oct 13, 2022 (156)
95 EVA ss5847405688 Oct 13, 2022 (156)
96 EVA ss5847662895 Oct 13, 2022 (156)
97 EVA ss5848347717 Oct 13, 2022 (156)
98 EVA ss5850291963 Oct 13, 2022 (156)
99 EVA ss5903575512 Oct 13, 2022 (156)
100 EVA ss5944091284 Oct 13, 2022 (156)
101 EVA ss5979385059 Oct 13, 2022 (156)
102 1000Genomes NC_000012.11 - 21391976 Oct 12, 2018 (152)
103 1000Genomes_30x NC_000012.12 - 21239042 Oct 13, 2022 (156)
104 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 21391976 Oct 12, 2018 (152)
105 Genome-wide autozygosity in Daghestan NC_000012.10 - 21283243 Apr 26, 2020 (154)
106 Genetic variation in the Estonian population NC_000012.11 - 21391976 Oct 12, 2018 (152)
107 ExAC NC_000012.11 - 21391976 Oct 12, 2018 (152)
108 The Danish reference pan genome NC_000012.11 - 21391976 Apr 26, 2020 (154)
109 gnomAD - Genomes NC_000012.12 - 21239042 Apr 26, 2021 (155)
110 gnomAD - Exomes NC_000012.11 - 21391976 Jul 13, 2019 (153)
111 GO Exome Sequencing Project NC_000012.11 - 21391976 Oct 12, 2018 (152)
112 Genome of the Netherlands Release 5 NC_000012.11 - 21391976 Apr 26, 2020 (154)
113 Medical Genome Project healthy controls from Spanish population NC_000012.11 - 21391976 Apr 26, 2020 (154)
114 Northern Sweden NC_000012.11 - 21391976 Jul 13, 2019 (153)
115 The PAGE Study NC_000012.12 - 21239042 Jul 13, 2019 (153)
116 CNV burdens in cranial meningiomas NC_000012.11 - 21391976 Apr 26, 2021 (155)
117 MxGDAR/Encodat-PGx NC_000012.11 - 21391976 Apr 26, 2021 (155)
118 PharmGKB Aggregated NC_000012.12 - 21239042 Apr 26, 2020 (154)
119 Qatari NC_000012.11 - 21391976 Apr 26, 2020 (154)
120 SGDP_PRJ NC_000012.11 - 21391976 Apr 26, 2020 (154)
121 Siberian NC_000012.11 - 21391976 Apr 26, 2020 (154)
122 TopMed NC_000012.12 - 21239042 Apr 26, 2021 (155)
123 UK 10K study - Twins NC_000012.11 - 21391976 Oct 12, 2018 (152)
124 A Vietnamese Genetic Variation Database NC_000012.11 - 21391976 Jul 13, 2019 (153)
125 ALFA NC_000012.12 - 21239042 Apr 26, 2021 (155)
126 ClinVar RCV000321358.9 Oct 13, 2022 (156)
127 ClinVar RCV001723891.1 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)
rs61617271 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
99256, ss483039603, ss1397628281, ss1598990250 NC_000012.10:21283242:A:C NC_000012.12:21239041:A:C (self)
56925983, 31608641, 22385095, 1110116, 2875891, 8904295, 1168802, 14103899, 439102, 12122427, 213193, 2742, 14724038, 29862704, 7930543, 31608641, 7013600, ss225645185, ss235854602, ss342351485, ss483746302, ss491038306, ss491465355, ss535946207, ss658576100, ss779515580, ss780908773, ss782316711, ss783596245, ss834985998, ss989317577, ss1078305824, ss1344207289, ss1576156204, ss1628167931, ss1671161964, ss1690820109, ss1711323342, ss1752060081, ss1807153243, ss1917871603, ss1932682108, ss1946333571, ss1959419567, ss2027088417, ss2095032157, ss2155414189, ss2632934735, ss2632934736, ss2632934737, ss2710756147, ss2739676313, ss2748826425, ss2908179811, ss2984969957, ss3009331092, ss3021413103, ss3029638282, ss3349960957, ss3626833526, ss3626833527, ss3630945874, ss3634495022, ss3640202355, ss3644586529, ss3646439213, ss3651787278, ss3651787279, ss3653742508, ss3676646847, ss3738837562, ss3744392926, ss3744795735, ss3772295258, ss3824711317, ss3825817709, ss3833014876, ss3877845724, ss3984023437, ss3984449741, ss3984663701, ss3986562238, ss5237508242, ss5404383965, ss5510620097, ss5512473932, ss5624296750, ss5652740838, ss5800175383, ss5837691298, ss5847405688, ss5847662895, ss5848347717, ss5944091284, ss5979385059 NC_000012.11:21391975:A:C NC_000012.12:21239041:A:C (self)
RCV000321358.9, RCV001723891.1, 74649398, 401392286, 900684, 2697, 126767439, 6541596660, ss2188378580, ss3645240570, ss3693260712, ss3725309358, ss3771679215, ss3815548952, ss4911221782, ss5237659613, ss5290066286, ss5314434931, ss5484925976, ss5587123463, ss5850291963, ss5903575512 NC_000012.12:21239041:A:C NC_000012.12:21239041:A:C (self)
ss48422820, ss69103293, ss84165356, ss98335542, ss105440262, ss120239965 NT_009714.17:14152099:A:C NC_000012.12:21239041:A:C (self)
Help

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

3 citations for rs34671512
PMID Title Author Year Journal
22147369 Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition. Ramsey LB et al. 2012 Genome research
29898760 A cost effective RFLP method to genotype Solute carrier organic anion 1B1 (SLCO1B1) c.1929A>C (p.Leu643Phe, rs34671512); a variant with potential effect on rosuvastatin pharmacokinetics. Soko ND et al. 2018 BMC research notes
33875422 Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment. Pernaute-Lau L et al. 2021 Antimicrobial agents and chemotherapy
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.post825+45319f0