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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.

rs12720461

Current Build 157

Released September 3, 2024

Organism
Homo sapiens
Position
chr15:74749010 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.001689 (447/264690, TOPMED)
T=0.002920 (529/181168, ALFA)
T=0.001943 (290/149280, GnomAD_genomes) (+ 12 more)
T=0.00062 (49/78702, PAGE_STUDY)
T=0.0006 (4/6404, 1000G_30X)
T=0.0006 (3/5008, 1000G)
T=0.0027 (12/4480, Estonian)
T=0.0026 (10/3854, ALSPAC)
T=0.0030 (11/3708, TWINSUK)
T=0.004 (4/998, GoNL)
T=0.005 (5/966, HapMap)
T=0.003 (1/358, PharmGKB)
T=0.023 (5/216, Qatari)
C=0.5 (1/2, SGDP_PRJ)
T=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CYP1A2 : Intron Variant
Publications
8 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 181168 C=0.997080 T=0.002920 0.99416 0.0 0.00584 0
European Sub 159002 C=0.997069 T=0.002931 0.994138 0.0 0.005862 0
African Sub 6936 C=0.9994 T=0.0006 0.998847 0.0 0.001153 0
African Others Sub 252 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 6684 C=0.9994 T=0.0006 0.998803 0.0 0.001197 0
Asian Sub 482 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 368 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Other Asian Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 1 Sub 734 C=0.997 T=0.003 0.99455 0.0 0.00545 0
Latin American 2 Sub 2600 C=0.9996 T=0.0004 0.999231 0.0 0.000769 0
South Asian Sub 5030 C=0.9928 T=0.0072 0.985686 0.0 0.014314 0
Other Sub 6384 C=0.9969 T=0.0031 0.993734 0.0 0.006266 0


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 C=0.998311 T=0.001689
Allele Frequency Aggregator Total Global 181168 C=0.997080 T=0.002920
Allele Frequency Aggregator European Sub 159002 C=0.997069 T=0.002931
Allele Frequency Aggregator African Sub 6936 C=0.9994 T=0.0006
Allele Frequency Aggregator Other Sub 6384 C=0.9969 T=0.0031
Allele Frequency Aggregator South Asian Sub 5030 C=0.9928 T=0.0072
Allele Frequency Aggregator Latin American 2 Sub 2600 C=0.9996 T=0.0004
Allele Frequency Aggregator Latin American 1 Sub 734 C=0.997 T=0.003
Allele Frequency Aggregator Asian Sub 482 C=1.000 T=0.000
gnomAD v4 - Genomes Global Study-wide 149280 C=0.998057 T=0.001943
gnomAD v4 - Genomes European Sub 78636 C=0.99742 T=0.00258
gnomAD v4 - Genomes African Sub 41562 C=0.99952 T=0.00048
gnomAD v4 - Genomes American Sub 15294 C=0.99954 T=0.00046
gnomAD v4 - Genomes East Asian Sub 5190 C=1.0000 T=0.0000
gnomAD v4 - Genomes South Asian Sub 4832 C=0.9950 T=0.0050
gnomAD v4 - Genomes Ashkenazi Jewish Sub 3472 C=0.9902 T=0.0098
gnomAD v4 - Genomes Middle Eastern sub 294 C=0.993 T=0.007
The PAGE Study Global Study-wide 78702 C=0.99938 T=0.00062
The PAGE Study AfricanAmerican Sub 32516 C=0.99963 T=0.00037
The PAGE Study Mexican Sub 10810 C=0.99954 T=0.00046
The PAGE Study Asian Sub 8318 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 C=0.9982 T=0.0018
The PAGE Study NativeHawaiian Sub 4534 C=0.9991 T=0.0009
The PAGE Study Cuban Sub 4230 C=0.9991 T=0.0009
The PAGE Study Dominican Sub 3828 C=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2450 C=0.9996 T=0.0004
The PAGE Study SouthAmerican Sub 1982 C=0.9995 T=0.0005
The PAGE Study NativeAmerican Sub 1260 C=0.9976 T=0.0024
The PAGE Study SouthAsian Sub 856 C=0.994 T=0.006
1000Genomes_30X Global Study-wide 6404 C=0.9994 T=0.0006
1000Genomes_30X African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30X Europe Sub 1266 C=0.9976 T=0.0024
1000Genomes_30X South Asian Sub 1202 C=0.9992 T=0.0008
1000Genomes_30X East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30X American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9994 T=0.0006
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9970 T=0.0030
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=1.000 T=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9973 T=0.0027
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9974 T=0.0026
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9970 T=0.0030
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.996 T=0.004
HapMap Global Study-wide 966 C=0.995 T=0.005
HapMap African Sub 404 C=0.998 T=0.002
HapMap American Sub 296 C=0.997 T=0.003
HapMap Europe Sub 176 C=0.983 T=0.017
HapMap Asian Sub 90 C=1.00 T=0.00
PharmGKB Aggregated Global Study-wide 358 C=0.997 T=0.003
PharmGKB Aggregated PA149535153 Sub 358 C=0.997 T=0.003
Qatari Global Study-wide 216 C=0.977 T=0.023
SGDP_PRJ Global Study-wide 2 C=0.5 T=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 15 NC_000015.10:g.74749010C>T
GRCh37.p13 chr 15 NC_000015.9:g.75041351C>T
CYP1A1-CYP1A2 RefSeqGene NG_008431.2:g.31469C>T
CYP1A2 RefSeqGene (LRG_1274) NG_061543.1:g.5166C>T
LOC110467516 genomic region NG_055245.1:g.4680C>T
Gene: CYP1A2, cytochrome P450 family 1 subfamily A member 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CYP1A2 transcript NM_000761.5:c.-10+113C>T 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.

Not Reported in ClinVar
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 C= T
GRCh38.p14 chr 15 NC_000015.10:g.74749010= NC_000015.10:g.74749010C>T
GRCh37.p13 chr 15 NC_000015.9:g.75041351= NC_000015.9:g.75041351C>T
CYP1A1-CYP1A2 RefSeqGene NG_008431.2:g.31469= NG_008431.2:g.31469C>T
CYP1A2 RefSeqGene (LRG_1274) NG_061543.1:g.5166= NG_061543.1:g.5166C>T
LOC110467516 genomic region NG_055245.1:g.4680= NG_055245.1:g.4680C>T
CYP1A2 transcript NM_000761.3:c.-10+113= NM_000761.3:c.-10+113C>T
CYP1A2 transcript NM_000761.5:c.-10+113= NM_000761.5:c.-10+113C>T
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#.

78 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 WRAYLAB ss20418281 Apr 05, 2004 (121)
2 BIOVENTURES ss32475100 May 24, 2005 (125)
3 SNP500CANCER ss48293714 Mar 13, 2006 (126)
4 ILLUMINA ss75235230 Dec 06, 2007 (129)
5 PHARMGKB_AB_DME ss84158700 Dec 15, 2007 (130)
6 KRIBB_YJKIM ss119808382 Dec 01, 2009 (131)
7 ILLUMINA ss153275061 Dec 01, 2009 (131)
8 ILLUMINA ss159232839 Dec 01, 2009 (131)
9 ILLUMINA ss160296911 Dec 01, 2009 (131)
10 ILLUMINA ss172232549 Jul 04, 2010 (132)
11 1000GENOMES ss338891624 May 09, 2011 (134)
12 ILLUMINA ss479812540 May 04, 2012 (137)
13 ILLUMINA ss479819658 May 04, 2012 (137)
14 ILLUMINA ss480404424 Sep 08, 2015 (146)
15 ILLUMINA ss484704763 May 04, 2012 (137)
16 ILLUMINA ss536810794 Sep 08, 2015 (146)
17 ILLUMINA ss778789425 Sep 08, 2015 (146)
18 ILLUMINA ss782799150 Sep 08, 2015 (146)
19 ILLUMINA ss783764706 Sep 08, 2015 (146)
20 ILLUMINA ss832052100 Sep 08, 2015 (146)
21 ILLUMINA ss832745176 Jul 13, 2019 (153)
22 ILLUMINA ss834249455 Sep 08, 2015 (146)
23 EVA-GONL ss991955438 Aug 21, 2014 (142)
24 1000GENOMES ss1354127365 Aug 21, 2014 (142)
25 EVA_UK10K_ALSPAC ss1633356812 Apr 01, 2015 (144)
26 EVA_UK10K_TWINSUK ss1676350845 Apr 01, 2015 (144)
27 EVA_SVP ss1713502764 Apr 01, 2015 (144)
28 ILLUMINA ss1752171274 Sep 08, 2015 (146)
29 WEILL_CORNELL_DGM ss1935358588 Feb 12, 2016 (147)
30 ILLUMINA ss1959626384 Feb 12, 2016 (147)
31 JJLAB ss2028461524 Sep 14, 2016 (149)
32 HUMAN_LONGEVITY ss2208164815 Dec 20, 2016 (150)
33 ILLUMINA ss2633251309 Nov 08, 2017 (151)
34 ILLUMINA ss2710820366 Nov 08, 2017 (151)
35 GNOMAD ss2936801928 Nov 08, 2017 (151)
36 AFFY ss2985046784 Nov 08, 2017 (151)
37 AFFY ss2985680242 Nov 08, 2017 (151)
38 SWEGEN ss3013550578 Nov 08, 2017 (151)
39 ILLUMINA ss3021649404 Nov 08, 2017 (151)
40 ILLUMINA ss3627401421 Oct 12, 2018 (152)
41 ILLUMINA ss3631242637 Oct 12, 2018 (152)
42 ILLUMINA ss3633103044 Oct 12, 2018 (152)
43 ILLUMINA ss3633807913 Oct 12, 2018 (152)
44 ILLUMINA ss3634614896 Oct 12, 2018 (152)
45 ILLUMINA ss3635496703 Oct 12, 2018 (152)
46 ILLUMINA ss3636304922 Oct 12, 2018 (152)
47 ILLUMINA ss3637248010 Oct 12, 2018 (152)
48 ILLUMINA ss3638095671 Oct 12, 2018 (152)
49 ILLUMINA ss3640322217 Oct 12, 2018 (152)
50 ILLUMINA ss3643079189 Oct 12, 2018 (152)
51 ILLUMINA ss3652051092 Oct 12, 2018 (152)
52 ILLUMINA ss3653818978 Oct 12, 2018 (152)
53 EGCUT_WGS ss3680697607 Jul 13, 2019 (153)
54 EVA_DECODE ss3698219460 Jul 13, 2019 (153)
55 ILLUMINA ss3725514472 Jul 13, 2019 (153)
56 ILLUMINA ss3744915420 Jul 13, 2019 (153)
57 PAGE_CC ss3771841896 Jul 13, 2019 (153)
58 ILLUMINA ss3772413984 Jul 13, 2019 (153)
59 SGDP_PRJ ss3883259781 Apr 27, 2020 (154)
60 EVA ss4017710715 Apr 27, 2021 (155)
61 TOPMED ss4997226080 Apr 27, 2021 (155)
62 EVA ss6269305177 Nov 01, 2024 (157)
63 EVA ss6315157297 Nov 01, 2024 (157)
64 EVA ss6322526135 Nov 01, 2024 (157)
65 GNOMAD ss6981064176 Nov 01, 2024 (157)
66 1000G_HIGH_COVERAGE ss8299021705 Nov 01, 2024 (157)
67 EVA ss8420300620 Nov 01, 2024 (157)
68 HUGCELL_USP ss8492692935 Nov 01, 2024 (157)
69 1000G_HIGH_COVERAGE ss8600713803 Nov 01, 2024 (157)
70 SANFORD_IMAGENETICS ss8624365245 Nov 01, 2024 (157)
71 SANFORD_IMAGENETICS ss8657836137 Nov 01, 2024 (157)
72 EVA ss8828426678 Nov 01, 2024 (157)
73 EVA ss8847451975 Nov 01, 2024 (157)
74 EVA ss8847749759 Nov 01, 2024 (157)
75 EVA ss8876549152 Nov 01, 2024 (157)
76 EVA ss8949253585 Nov 01, 2024 (157)
77 EVA ss8979466988 Nov 01, 2024 (157)
78 EVA ss8982251120 Nov 01, 2024 (157)
79 1000Genomes NC_000015.9 - 75041351 Oct 12, 2018 (152)
80 1000Genomes_30X NC_000015.10 - 74749010 Nov 01, 2024 (157)
81 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 75041351 Oct 12, 2018 (152)
82 Genetic variation in the Estonian population NC_000015.9 - 75041351 Oct 12, 2018 (152)
83 gnomAD v4 - Genomes NC_000015.10 - 74749010 Nov 01, 2024 (157)
84 Genome of the Netherlands Release 5 NC_000015.9 - 75041351 Apr 27, 2020 (154)
85 HapMap NC_000015.10 - 74749010 Apr 27, 2020 (154)
86 The PAGE Study NC_000015.10 - 74749010 Jul 13, 2019 (153)
87 PharmGKB Aggregated NC_000015.10 - 74749010 Apr 27, 2020 (154)
88 Qatari NC_000015.9 - 75041351 Apr 27, 2020 (154)
89 SGDP_PRJ NC_000015.9 - 75041351 Apr 27, 2020 (154)
90 TopMed NC_000015.10 - 74749010 Apr 27, 2021 (155)
91 UK 10K study - Twins NC_000015.9 - 75041351 Oct 12, 2018 (152)
92 ALFA NC_000015.10 - 74749010 Nov 01, 2024 (157)
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)
rs59459319 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss479812540, ss1713502764, ss3643079189 NC_000015.8:72828403:C:T NC_000015.10:74749009:C:T (self)
67222937, 37331430, 26435855, 16659130, 17400518, 35276761, 37331430, ss338891624, ss479819658, ss480404424, ss484704763, ss536810794, ss778789425, ss782799150, ss783764706, ss832052100, ss832745176, ss834249455, ss991955438, ss1354127365, ss1633356812, ss1676350845, ss1752171274, ss1935358588, ss1959626384, ss2028461524, ss2633251309, ss2710820366, ss2936801928, ss2985046784, ss2985680242, ss3013550578, ss3021649404, ss3627401421, ss3631242637, ss3633103044, ss3633807913, ss3634614896, ss3635496703, ss3636304922, ss3637248010, ss3638095671, ss3640322217, ss3652051092, ss3653818978, ss3680697607, ss3744915420, ss3772413984, ss3883259781, ss4017710715, ss6269305177, ss6315157297, ss6322526135, ss8420300620, ss8624365245, ss8657836137, ss8828426678, ss8847451975, ss8847749759, ss8949253585, ss8979466988, ss8982251120 NC_000015.9:75041350:C:T NC_000015.10:74749009:C:T (self)
88239738, 508488298, 1295504, 1063365, 3607, 212771740, 6883674054, ss2208164815, ss3698219460, ss3725514472, ss3771841896, ss4997226080, ss6981064176, ss8299021705, ss8492692935, ss8600713803, ss8876549152 NC_000015.10:74749009:C:T NC_000015.10:74749009:C:T (self)
ss20418281, ss32475100, ss48293714, ss75235230, ss84158700, ss119808382, ss153275061, ss159232839, ss160296911, ss172232549 NT_010194.17:45831907:C:T NC_000015.10:74749009:C:T (self)
Help

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

8 citations for rs12720461
PMID Title Author Year Journal
20389299 Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism. Xu CF et al. 2010 British journal of cancer
20957336 CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. Wickliffe JK et al. 2011 Molecular medicine (Cambridge, Mass.)
21382071 Altered xanthine oxidase and N-acetyltransferase activity in obese children. Chiney MS et al. 2011 British journal of clinical pharmacology
21918647 Pathway-Targeted Pharmacogenomics of CYP1A2 in Human Liver. Klein K et al. 2010 Frontiers in pharmacology
26785747 Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. Iskakova AN et al. 2016 BMC genetics
30093869 Biological Predictors of Clozapine Response: A Systematic Review. Samanaite R et al. 2018 Frontiers in psychiatry
30214584 Influence of SLCO1B1 in gastric cancer patients treated with EOF chemotherapy. Feng W et al. 2018 Oncology letters
33519226 Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. Fernandes MR et al. 2021 Pharmacogenomics and personalized medicine
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