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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.

rs61736512

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:42129132 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.030670 (8118/264690, TOPMED)
T=0.006681 (1640/245456, GnomAD_exome)
T=0.003274 (493/150570, ALFA) (+ 9 more)
T=0.028260 (3944/139562, GnomAD)
T=0.008290 (958/115554, ExAC)
T=0.02892 (358/12380, GO-ESP)
T=0.0315 (202/6404, 1000G_30x)
T=0.0294 (147/5008, 1000G)
T=0.0064 (21/3278, PRJNA289433)
T=0.001 (1/998, GoNL)
T=0.009 (2/214, Qatari)
C=0.44 (7/16, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CYP2D6 : Missense Variant
LOC102723722 : 2KB Upstream Variant
Publications
11 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 150570 C=0.996726 T=0.003274 0.993837 0.000385 0.005778 32
European Sub 131802 C=0.999507 T=0.000493 0.999029 0.000015 0.000956 32
African Sub 4422 C=0.9166 T=0.0834 0.844867 0.011759 0.143374 5
African Others Sub 176 C=0.892 T=0.108 0.784091 0.0 0.215909 1
African American Sub 4246 C=0.9176 T=0.0824 0.847386 0.012247 0.140367 7
Asian Sub 3378 C=0.9997 T=0.0003 0.999408 0.0 0.000592 0
East Asian Sub 2720 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Other Asian Sub 658 C=0.998 T=0.002 0.99696 0.0 0.00304 0
Latin American 1 Sub 790 C=0.973 T=0.027 0.951899 0.005063 0.043038 7
Latin American 2 Sub 952 C=0.995 T=0.005 0.989496 0.0 0.010504 0
South Asian Sub 274 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Other Sub 8952 C=0.9964 T=0.0036 0.992851 0.0 0.007149 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=0.969330 T=0.030670
gnomAD - Exomes Global Study-wide 245456 C=0.993319 T=0.006681
gnomAD - Exomes European Sub 131794 C=0.999803 T=0.000197
gnomAD - Exomes Asian Sub 48366 C=0.99963 T=0.00037
gnomAD - Exomes American Sub 34330 C=0.99610 T=0.00390
gnomAD - Exomes African Sub 14974 C=0.90490 T=0.09510
gnomAD - Exomes Ashkenazi Jewish Sub 10002 C=0.99790 T=0.00210
gnomAD - Exomes Other Sub 5990 C=0.9972 T=0.0028
Allele Frequency Aggregator Total Global 150570 C=0.996726 T=0.003274
Allele Frequency Aggregator European Sub 131802 C=0.999507 T=0.000493
Allele Frequency Aggregator Other Sub 8952 C=0.9964 T=0.0036
Allele Frequency Aggregator African Sub 4422 C=0.9166 T=0.0834
Allele Frequency Aggregator Asian Sub 3378 C=0.9997 T=0.0003
Allele Frequency Aggregator Latin American 2 Sub 952 C=0.995 T=0.005
Allele Frequency Aggregator Latin American 1 Sub 790 C=0.973 T=0.027
Allele Frequency Aggregator South Asian Sub 274 C=1.000 T=0.000
gnomAD - Genomes Global Study-wide 139562 C=0.971740 T=0.028260
gnomAD - Genomes European Sub 75752 C=0.99950 T=0.00050
gnomAD - Genomes African Sub 41600 C=0.91055 T=0.08945
gnomAD - Genomes American Sub 13624 C=0.99038 T=0.00962
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9982 T=0.0018
gnomAD - Genomes East Asian Sub 3122 C=0.9990 T=0.0010
gnomAD - Genomes Other Sub 2142 C=0.9790 T=0.0210
ExAC Global Study-wide 115554 C=0.991710 T=0.008290
ExAC Europe Sub 70088 C=0.99976 T=0.00024
ExAC Asian Sub 24576 C=0.99967 T=0.00033
ExAC American Sub 11202 C=0.99607 T=0.00393
ExAC African Sub 8824 C=0.8994 T=0.1006
ExAC Other Sub 864 C=0.999 T=0.001
GO Exome Sequencing Project Global Study-wide 12380 C=0.97108 T=0.02892
GO Exome Sequencing Project European American Sub 8320 C=0.9998 T=0.0002
GO Exome Sequencing Project African American Sub 4060 C=0.9123 T=0.0877
1000Genomes_30x Global Study-wide 6404 C=0.9685 T=0.0315
1000Genomes_30x African Sub 1786 C=0.8886 T=0.1114
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=0.997 T=0.003
1000Genomes Global Study-wide 5008 C=0.9706 T=0.0294
1000Genomes African Sub 1322 C=0.8903 T=0.1097
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=0.997 T=0.003
MxGDAR/Encodat-PGx Global Study-wide 3278 C=0.9936 T=0.0064
MxGDAR/Encodat-PGx MxGDAR Sub 3278 C=0.9936 T=0.0064
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.999 T=0.001
Qatari Global Study-wide 214 C=0.991 T=0.009
SGDP_PRJ Global Study-wide 16 C=0.44 T=0.56
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 22 NC_000022.11:g.42129132C>G
GRCh38.p14 chr 22 NC_000022.11:g.42129132C>T
gene/pseudogene RefSeqGene (LRG_303) NG_008376.4:g.6679G>C
gene/pseudogene RefSeqGene (LRG_303) NG_008376.4:g.6679G>A
GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 NW_015148968.1:g.6873C>G
GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 NW_015148968.1:g.6873C>T
GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 NW_014040931.1:g.22721C>G
GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 NW_014040931.1:g.22721C>T
GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 NW_009646208.1:g.14698C>G
GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 NW_009646208.1:g.14698C>T
GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 NW_004504305.1:g.51459C>G
GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 NW_004504305.1:g.51459C>T
GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 NT_187682.1:g.51473C>G
GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 NT_187682.1:g.51473C>T
GRCh37.p13 chr 22 NC_000022.10:g.42525134C>G
GRCh37.p13 chr 22 NC_000022.10:g.42525134C>T
Gene: CYP2D6, cytochrome P450 family 2 subfamily D member 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CYP2D6 transcript variant 2 NM_001025161.3:c.353-188G…

NM_001025161.3:c.353-188G>C

N/A Intron Variant
CYP2D6 transcript variant 1 NM_000106.6:c.406G>C V [GTG] > L [CTG] Coding Sequence Variant
cytochrome P450 2D6 isoform 1 NP_000097.3:p.Val136Leu V (Val) > L (Leu) Missense Variant
CYP2D6 transcript variant 1 NM_000106.6:c.406G>A V [GTG] > M [ATG] Coding Sequence Variant
cytochrome P450 2D6 isoform 1 NP_000097.3:p.Val136Met V (Val) > M (Met) 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
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= G T
GRCh38.p14 chr 22 NC_000022.11:g.42129132= NC_000022.11:g.42129132C>G NC_000022.11:g.42129132C>T
gene/pseudogene RefSeqGene (LRG_303) NG_008376.4:g.6679= NG_008376.4:g.6679G>C NG_008376.4:g.6679G>A
CYP2D6 transcript variant 1 NM_000106.6:c.406= NM_000106.6:c.406G>C NM_000106.6:c.406G>A
CYP2D6 transcript variant 1 NM_000106.5:c.406= NM_000106.5:c.406G>C NM_000106.5:c.406G>A
GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 NW_015148968.1:g.6873= NW_015148968.1:g.6873C>G NW_015148968.1:g.6873C>T
GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 NW_014040931.1:g.22721= NW_014040931.1:g.22721C>G NW_014040931.1:g.22721C>T
GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 NW_009646208.1:g.14698= NW_009646208.1:g.14698C>G NW_009646208.1:g.14698C>T
GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 NW_004504305.1:g.51459= NW_004504305.1:g.51459C>G NW_004504305.1:g.51459C>T
GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 NT_187682.1:g.51473= NT_187682.1:g.51473C>G NT_187682.1:g.51473C>T
GRCh37.p13 chr 22 NC_000022.10:g.42525134= NC_000022.10:g.42525134C>G NC_000022.10:g.42525134C>T
cytochrome P450 2D6 isoform 1 NP_000097.3:p.Val136= NP_000097.3:p.Val136Leu NP_000097.3:p.Val136Met
CYP2D6 transcript variant 2 NM_001025161.2:c.353-188= NM_001025161.2:c.353-188G>C NM_001025161.2:c.353-188G>A
CYP2D6 transcript variant 2 NM_001025161.3:c.353-188= NM_001025161.3:c.353-188G>C NM_001025161.3:c.353-188G>A
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#.

47 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 CORNELL ss86247392 Mar 23, 2008 (129)
2 AFFY_DM3_1 ss105434376 Feb 05, 2009 (130)
3 EGP_SNPS ss159831291 Dec 01, 2009 (131)
4 1000GENOMES ss228698359 Jul 14, 2010 (132)
5 1000GENOMES ss491194350 May 04, 2012 (137)
6 EXOME_CHIP ss491572623 May 04, 2012 (137)
7 ILLUMINA ss533930588 Sep 08, 2015 (146)
8 TISHKOFF ss566667079 Apr 25, 2013 (138)
9 NHLBI-ESP ss713628922 Apr 25, 2013 (138)
10 EVA-GONL ss995393813 Aug 21, 2014 (142)
11 1000GENOMES ss1367336157 Aug 21, 2014 (142)
12 CLINVAR ss1457608665 Nov 23, 2014 (142)
13 EVA_EXAC ss1694379472 Apr 01, 2015 (144)
14 WEILL_CORNELL_DGM ss1938961298 Feb 12, 2016 (147)
15 ILLUMINA ss1946595226 Feb 12, 2016 (147)
16 ILLUMINA ss1959984048 Feb 12, 2016 (147)
17 JJLAB ss2030253494 Sep 14, 2016 (149)
18 ILLUMINA ss2633883902 Nov 08, 2017 (151)
19 ILLUMINA ss2710959490 Nov 08, 2017 (151)
20 GNOMAD ss2745191933 Nov 08, 2017 (151)
21 GNOMAD ss2750571759 Nov 08, 2017 (151)
22 GNOMAD ss2974893693 Nov 08, 2017 (151)
23 AFFY ss2985240510 Nov 08, 2017 (151)
24 AFFY ss2985857674 Nov 08, 2017 (151)
25 SWEGEN ss3019375545 Nov 08, 2017 (151)
26 ILLUMINA ss3022190903 Nov 08, 2017 (151)
27 ILLUMINA ss3625804275 Oct 12, 2018 (152)
28 ILLUMINA ss3628544573 Oct 12, 2018 (152)
29 ILLUMINA ss3644802025 Oct 12, 2018 (152)
30 ILLUMINA ss3652655255 Oct 12, 2018 (152)
31 ILLUMINA ss3654008764 Oct 12, 2018 (152)
32 ILLUMINA ss3744207435 Jul 13, 2019 (153)
33 EVA ss3825454867 Apr 27, 2020 (154)
34 SGDP_PRJ ss3890637700 Apr 27, 2020 (154)
35 EVA ss3984450684 Apr 26, 2021 (155)
36 EVA ss3986866478 Apr 26, 2021 (155)
37 TOPMED ss5110780763 Apr 26, 2021 (155)
38 1000G_HIGH_COVERAGE ss5311255669 Oct 16, 2022 (156)
39 EVA ss5441587622 Oct 16, 2022 (156)
40 HUGCELL_USP ss5503082688 Oct 16, 2022 (156)
41 EVA ss5512474025 Oct 16, 2022 (156)
42 1000G_HIGH_COVERAGE ss5618884828 Oct 16, 2022 (156)
43 SANFORD_IMAGENETICS ss5664576737 Oct 16, 2022 (156)
44 EVA ss5799405073 Oct 16, 2022 (156)
45 EVA ss5847946437 Oct 16, 2022 (156)
46 EVA ss5959434924 Oct 16, 2022 (156)
47 EVA ss5979638964 Oct 16, 2022 (156)
48 1000Genomes NC_000022.10 - 42525134 Oct 12, 2018 (152)
49 1000Genomes_30x NC_000022.11 - 42129132 Oct 16, 2022 (156)
50 ExAC NC_000022.10 - 42525134 Oct 12, 2018 (152)
51 gnomAD - Genomes NC_000022.11 - 42129132 Apr 26, 2021 (155)
52 gnomAD - Exomes NC_000022.10 - 42525134 Jul 13, 2019 (153)
53 GO Exome Sequencing Project NC_000022.10 - 42525134 Oct 12, 2018 (152)
54 Genome of the Netherlands Release 5 NC_000022.10 - 42525134 Apr 27, 2020 (154)
55 MxGDAR/Encodat-PGx NC_000022.10 - 42525134 Apr 26, 2021 (155)
56 Qatari NC_000022.10 - 42525134 Apr 27, 2020 (154)
57 SGDP_PRJ NC_000022.10 - 42525134 Apr 27, 2020 (154)
58 TopMed NC_000022.11 - 42129132 Apr 26, 2021 (155)
59 ALFA NC_000022.11 - 42129132 Apr 26, 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
ss5512474025 NC_000022.10:42525133:C:G NC_000022.11:42129131:C:G
80894577, 5962791, 14524714, 1911696, 19935874, 3685, 21003220, 42654680, ss228698359, ss491194350, ss491572623, ss533930588, ss566667079, ss713628922, ss995393813, ss1367336157, ss1694379472, ss1938961298, ss1946595226, ss1959984048, ss2030253494, ss2633883902, ss2710959490, ss2745191933, ss2750571759, ss2974893693, ss2985240510, ss2985857674, ss3019375545, ss3022190903, ss3625804275, ss3628544573, ss3644802025, ss3652655255, ss3654008764, ss3744207435, ss3825454867, ss3890637700, ss3984450684, ss3986866478, ss5441587622, ss5512474025, ss5664576737, ss5799405073, ss5847946437, ss5959434924, ss5979638964 NC_000022.10:42525133:C:T NC_000022.11:42129131:C:T (self)
106410763, 571270048, 385889710, 284189497, ss1457608665, ss5110780763, ss5311255669, ss5503082688, ss5618884828 NC_000022.11:42129131:C:T NC_000022.11:42129131:C:T (self)
ss86247392, ss105434376, ss159831291 NT_011520.12:21915702:C:T NC_000022.11:42129131: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.

11 citations for rs61736512
PMID Title Author Year Journal
21480951 Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients. Lim JS et al. 2011 British journal of clinical pharmacology
22482072 Genomics of Dementia: APOE- and CYP2D6-Related Pharmacogenetics. Cacabelos R et al. 2012 International journal of Alzheimer's disease
25266489 Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China. Zhang J et al. 2014 BMC genetics
26091847 Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China. Wang L et al. 2015 BMC genetics
27233804 Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. Jin T et al. 2016 BMC genetics
27785397 CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia. Kuzmanovska M et al. 2015 Balkan journal of medical genetics
29193749 Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years. Borobia AM et al. 2018 Clinical and translational science
30093869 Biological Predictors of Clozapine Response: A Systematic Review. Samanaite R et al. 2018 Frontiers in psychiatry
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
34385834 Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process. Borro M et al. 2021 Pharmacogenomics and personalized medicine
34621706 Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. Kim B et al. 2021 Translational and clinical pharmacology
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