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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.

rs72547515

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr15:74752211 (GRCh38.p13) 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 / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000015 (4/264690, TOPMED)
C=0.000004 (1/251386, GnomAD_exome)
A=0.000021 (3/140096, GnomAD) (+ 4 more)
C=0.000008 (1/121388, ExAC)
A=0.00003 (1/30408, ALFA)
A=0.00030 (5/16760, 8.3KJPN)
A=0.0005 (1/1832, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CYP1A2 : Missense Variant
Publications
1 citation
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.p13 chr 15 NC_000015.10:g.74752211G>A
GRCh38.p13 chr 15 NC_000015.10:g.74752211G>C
GRCh37.p13 chr 15 NC_000015.9:g.75044552G>A
GRCh37.p13 chr 15 NC_000015.9:g.75044552G>C
CYP1A1-CYP1A2 RefSeqGene NG_008431.2:g.34670G>A
CYP1A1-CYP1A2 RefSeqGene NG_008431.2:g.34670G>C
CYP1A2 RefSeqGene (LRG_1274) NG_061543.1:g.8367G>A
CYP1A2 RefSeqGene (LRG_1274) NG_061543.1:g.8367G>C
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.1130G>A R [CGA] > Q [CAA] Coding Sequence Variant
cytochrome P450 1A2 NP_000752.2:p.Arg377Gln R (Arg) > Q (Gln) Missense Variant
CYP1A2 transcript NM_000761.5:c.1130G>C R [CGA] > P [CCA] Coding Sequence Variant
cytochrome P450 1A2 NP_000752.2:p.Arg377Pro R (Arg) > P (Pro) 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.

Not Reported in ClinVar

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 30408 G=0.99997 A=0.00003, C=0.00000
European Sub 25776 G=0.99996 A=0.00004, C=0.00000
African Sub 2898 G=1.0000 A=0.0000, C=0.0000
African Others Sub 114 G=1.000 A=0.000, C=0.000
African American Sub 2784 G=1.0000 A=0.0000, C=0.0000
Asian Sub 156 G=1.000 A=0.000, C=0.000
East Asian Sub 130 G=1.000 A=0.000, C=0.000
Other Asian Sub 26 G=1.00 A=0.00, C=0.00
Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000
Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000
South Asian Sub 98 G=1.00 A=0.00, C=0.00
Other Sub 724 G=1.000 A=0.000, C=0.000


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=0.999985 A=0.000015
gnomAD - Exomes Global Study-wide 251386 G=0.999996 C=0.000004
gnomAD - Exomes European Sub 135352 G=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 49010 G=0.99998 C=0.00002
gnomAD - Exomes American Sub 34566 G=1.00000 C=0.00000
gnomAD - Exomes African Sub 16256 G=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10066 G=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6136 G=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140096 G=0.999979 A=0.000021
gnomAD - Genomes European Sub 75894 G=0.99999 A=0.00001
gnomAD - Genomes African Sub 41962 G=0.99998 A=0.00002
gnomAD - Genomes American Sub 13636 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3130 G=0.9997 A=0.0003
gnomAD - Genomes Other Sub 2150 G=1.0000 A=0.0000
ExAC Global Study-wide 121388 G=0.999992 C=0.000008
ExAC Europe Sub 73340 G=1.00000 C=0.00000
ExAC Asian Sub 25158 G=0.99996 C=0.00004
ExAC American Sub 11576 G=1.00000 C=0.00000
ExAC African Sub 10406 G=1.00000 C=0.00000
ExAC Other Sub 908 G=1.000 C=0.000
8.3KJPN JAPANESE Study-wide 16760 G=0.99970 A=0.00030
Korean Genome Project KOREAN Study-wide 1832 G=0.9995 A=0.0005
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 C
GRCh38.p13 chr 15 NC_000015.10:g.74752211= NC_000015.10:g.74752211G>A NC_000015.10:g.74752211G>C
GRCh37.p13 chr 15 NC_000015.9:g.75044552= NC_000015.9:g.75044552G>A NC_000015.9:g.75044552G>C
CYP1A1-CYP1A2 RefSeqGene NG_008431.2:g.34670= NG_008431.2:g.34670G>A NG_008431.2:g.34670G>C
CYP1A2 transcript NM_000761.4:c.1130= NM_000761.4:c.1130G>A NM_000761.4:c.1130G>C
CYP1A2 transcript NM_000761.5:c.1130= NM_000761.5:c.1130G>A NM_000761.5:c.1130G>C
CYP1A2 transcript NM_000761.3:c.1130= NM_000761.3:c.1130G>A NM_000761.3:c.1130G>C
CYP1A2 RefSeqGene (LRG_1274) NG_061543.1:g.8367= NG_061543.1:g.8367G>A NG_061543.1:g.8367G>C
cytochrome P450 1A2 NP_000752.2:p.Arg377= NP_000752.2:p.Arg377Gln NP_000752.2:p.Arg377Pro
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#.

11 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 AFFY_DM3_1 ss105434105 Feb 13, 2009 (130)
2 EVA_EXAC ss1691925940 Apr 01, 2015 (144)
3 HUMAN_LONGEVITY ss2208165008 Dec 20, 2016 (150)
4 TOPMED ss2372617453 Dec 20, 2016 (150)
5 ILLUMINA ss2710820377 Nov 08, 2017 (151)
6 GNOMAD ss2741398945 Nov 08, 2017 (151)
7 TOPMED ss3232004266 Nov 08, 2017 (151)
8 KOGIC ss3976481030 Apr 27, 2020 (154)
9 GNOMAD ss4291681481 Apr 27, 2021 (155)
10 TOPMED ss4997226897 Apr 27, 2021 (155)
11 TOMMO_GENOMICS ss5216965659 Apr 27, 2021 (155)
12 ExAC NC_000015.9 - 75044552 Oct 12, 2018 (152)
13 gnomAD - Genomes NC_000015.10 - 74752211 Apr 27, 2021 (155)
14 gnomAD - Exomes NC_000015.9 - 75044552 Jul 13, 2019 (153)
15 Korean Genome Project NC_000015.10 - 74752211 Apr 27, 2020 (154)
16 8.3KJPN NC_000015.9 - 75044552 Apr 27, 2021 (155)
17 TopMed NC_000015.10 - 74752211 Apr 27, 2021 (155)
18 ALFA NC_000015.10 - 74752211 Apr 27, 2021 (155)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
74934966, ss2372617453, ss2710820377, ss5216965659 NC_000015.9:75044551:G:A NC_000015.10:74752210:G:A (self)
473930846, 32859031, 133077041, 212772557, 7817116531, ss2208165008, ss3232004266, ss3976481030, ss4291681481, ss4997226897 NC_000015.10:74752210:G:A NC_000015.10:74752210:G:A (self)
ss105434105 NT_010194.17:45835108:G:A NC_000015.10:74752210:G:A (self)
2307088, 10666745, ss1691925940, ss2741398945 NC_000015.9:75044551:G:C NC_000015.10:74752210:G:C (self)
7817116531 NC_000015.10:74752210:G:C NC_000015.10:74752210:G:C
Help

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

1 citation for rs72547515
PMID Title Author Year Journal
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
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.post596+ae089ad