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.
rs1065852
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr22:42130692 (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 / G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.191960 (50810/264690, TOPMED)A=0.208750 (50363/241260, GnomAD_exome)A=0.186748 (25890/138636, GnomAD) (+ 18 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
CYP2D6 : Missense VariantLOC102723722 : Intron Variant
- Publications
- 93 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.
Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
---|---|---|---|---|---|---|---|---|
Total | Global | 48628 | G=0.78846 | A=0.21154 | 0.63338 | 0.05647 | 0.310151 | 32 |
European | Sub | 36686 | G=0.78161 | A=0.21839 | 0.6216 | 0.058387 | 0.320013 | 32 |
African | Sub | 3478 | G=0.8637 | A=0.1363 | 0.759057 | 0.031627 | 0.209316 | 12 |
African Others | Sub | 116 | G=0.948 | A=0.052 | 0.931034 | 0.034483 | 0.034483 | 14 |
African American | Sub | 3362 | G=0.8608 | A=0.1392 | 0.753123 | 0.031529 | 0.215348 | 10 |
Asian | Sub | 164 | G=0.421 | A=0.579 | 0.207317 | 0.365854 | 0.426829 | 1 |
East Asian | Sub | 110 | G=0.427 | A=0.573 | 0.236364 | 0.381818 | 0.381818 | 2 |
Other Asian | Sub | 54 | G=0.41 | A=0.59 | 0.148148 | 0.333333 | 0.518519 | 0 |
Latin American 1 | Sub | 500 | G=0.832 | A=0.168 | 0.704 | 0.04 | 0.256 | 1 |
Latin American 2 | Sub | 628 | G=0.876 | A=0.124 | 0.770701 | 0.019108 | 0.210191 | 0 |
South Asian | Sub | 94 | G=0.80 | A=0.20 | 0.638298 | 0.042553 | 0.319149 | 0 |
Other | Sub | 7078 | G=0.7845 | A=0.2155 | 0.625318 | 0.056231 | 0.318452 | 7 |
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").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
TopMed | Global | Study-wide | 264690 | G=0.808040 | A=0.191960 |
gnomAD - Exomes | Global | Study-wide | 241260 | G=0.791250 | A=0.208750 |
gnomAD - Exomes | European | Sub | 128880 | G=0.800054 | A=0.199946 |
gnomAD - Exomes | Asian | Sub | 47592 | G=0.68480 | A=0.31520 |
gnomAD - Exomes | American | Sub | 33760 | G=0.87722 | A=0.12278 |
gnomAD - Exomes | African | Sub | 15156 | G=0.87728 | A=0.12272 |
gnomAD - Exomes | Ashkenazi Jewish | Sub | 9944 | G=0.7576 | A=0.2424 |
gnomAD - Exomes | Other | Sub | 5928 | G=0.8013 | A=0.1987 |
gnomAD - Genomes | Global | Study-wide | 138636 | G=0.813252 | A=0.186748 |
gnomAD - Genomes | European | Sub | 75460 | G=0.79148 | A=0.20852 |
gnomAD - Genomes | African | Sub | 41134 | G=0.87526 | A=0.12474 |
gnomAD - Genomes | American | Sub | 13526 | G=0.84689 | A=0.15311 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3314 | G=0.7580 | A=0.2420 |
gnomAD - Genomes | East Asian | Sub | 3074 | G=0.4353 | A=0.5647 |
gnomAD - Genomes | Other | Sub | 2128 | G=0.8050 | A=0.1950 |
ExAC | Global | Study-wide | 95838 | G=0.75331 | A=0.24669 |
ExAC | Europe | Sub | 57680 | G=0.75775 | A=0.24225 |
ExAC | Asian | Sub | 21412 | G=0.66864 | A=0.33136 |
ExAC | American | Sub | 8216 | G=0.8487 | A=0.1513 |
ExAC | African | Sub | 7800 | G=0.8487 | A=0.1513 |
ExAC | Other | Sub | 730 | G=0.793 | A=0.207 |
Allele Frequency Aggregator | Total | Global | 48628 | G=0.78846 | A=0.21154 |
Allele Frequency Aggregator | European | Sub | 36686 | G=0.78161 | A=0.21839 |
Allele Frequency Aggregator | Other | Sub | 7078 | G=0.7845 | A=0.2155 |
Allele Frequency Aggregator | African | Sub | 3478 | G=0.8637 | A=0.1363 |
Allele Frequency Aggregator | Latin American 2 | Sub | 628 | G=0.876 | A=0.124 |
Allele Frequency Aggregator | Latin American 1 | Sub | 500 | G=0.832 | A=0.168 |
Allele Frequency Aggregator | Asian | Sub | 164 | G=0.421 | A=0.579 |
Allele Frequency Aggregator | South Asian | Sub | 94 | G=0.80 | A=0.20 |
14KJPN | JAPANESE | Study-wide | 28166 | G=0.60946 | A=0.39054 |
8.3KJPN | JAPANESE | Study-wide | 16712 | G=0.60346 | A=0.39654 |
1000Genomes_30x | Global | Study-wide | 6404 | G=0.7711 | A=0.2289 |
1000Genomes_30x | African | Sub | 1786 | G=0.8880 | A=0.1120 |
1000Genomes_30x | Europe | Sub | 1266 | G=0.7978 | A=0.2022 |
1000Genomes_30x | South Asian | Sub | 1202 | G=0.8328 | A=0.1672 |
1000Genomes_30x | East Asian | Sub | 1170 | G=0.4248 | A=0.5752 |
1000Genomes_30x | American | Sub | 980 | G=0.861 | A=0.139 |
1000Genomes | Global | Study-wide | 5008 | G=0.7620 | A=0.2380 |
1000Genomes | African | Sub | 1322 | G=0.8873 | A=0.1127 |
1000Genomes | East Asian | Sub | 1008 | G=0.4286 | A=0.5714 |
1000Genomes | Europe | Sub | 1006 | G=0.7982 | A=0.2018 |
1000Genomes | South Asian | Sub | 978 | G=0.835 | A=0.165 |
1000Genomes | American | Sub | 694 | G=0.852 | A=0.148 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2924 | G=0.4942 | A=0.5058, C=0.0000 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.768 | A=0.232 |
Northern Sweden | ACPOP | Study-wide | 600 | G=0.805 | A=0.195 |
Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.837 | A=0.163 |
CNV burdens in cranial meningiomas | Global | Study-wide | 534 | G=0.478 | A=0.522 |
CNV burdens in cranial meningiomas | CRM | Sub | 534 | G=0.478 | A=0.522 |
PharmGKB Aggregated | Global | Study-wide | 504 | G=0.698 | A=0.302 |
PharmGKB Aggregated | PA149585145 | Sub | 358 | G=0.615 | A=0.385 |
PharmGKB Aggregated | PA135943405 | Sub | 146 | G=0.904 | A=0.096 |
FINRISK | Finnish from FINRISK project | Study-wide | 272 | G=0.890 | A=0.110 |
Qatari | Global | Study-wide | 214 | G=0.836 | A=0.164 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 212 | G=0.349 | A=0.651 |
SGDP_PRJ | Global | Study-wide | 180 | G=0.372 | A=0.628 |
Siberian | Global | Study-wide | 14 | G=0.50 | A=0.50 |
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.
Sequence name | Change |
---|---|
GRCh38.p14 chr 22 | NC_000022.11:g.42130692G>A |
GRCh38.p14 chr 22 | NC_000022.11:g.42130692G>C |
gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.5119C>T |
gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.5119C>G |
GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.8433A>G |
GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.8433A>C |
GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.24281A>G |
GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.24281A>C |
GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.16258A>G |
GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.16258A>C |
GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.53019A>G |
GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.53019A>C |
GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.53033G>A |
GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.53033G>C |
GRCh37.p13 chr 22 | NC_000022.10:g.42526694G>A |
GRCh37.p13 chr 22 | NC_000022.10:g.42526694G>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CYP2D6 transcript variant 1 | NM_000106.6:c.100C>T | P [CCA] > S [TCA] | Coding Sequence Variant |
cytochrome P450 2D6 isoform 1 | NP_000097.3:p.Pro34Ser | P (Pro) > S (Ser) | Missense Variant |
CYP2D6 transcript variant 1 | NM_000106.6:c.100C>G | P [CCA] > A [GCA] | Coding Sequence Variant |
cytochrome P450 2D6 isoform 1 | NP_000097.3:p.Pro34Ala | P (Pro) > A (Ala) | Missense Variant |
CYP2D6 transcript variant 2 | NM_001025161.3:c.100C>T | P [CCA] > S [TCA] | Coding Sequence Variant |
cytochrome P450 2D6 isoform 2 | NP_001020332.2:p.Pro34Ser | P (Pro) > S (Ser) | Missense Variant |
CYP2D6 transcript variant 2 | NM_001025161.3:c.100C>G | P [CCA] > A [GCA] | Coding Sequence Variant |
cytochrome P450 2D6 isoform 2 | NP_001020332.2:p.Pro34Ala | P (Pro) > A (Ala) | Missense Variant |
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.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV000018389.23 | Debrisoquine, poor metabolism of | Drug-Response |
RCV000603460.1 | not specified | Likely-Benign |
RCV000734607.3 | not provided | Other |
RCV001029560.2 | Tramadol response | Drug-Response |
RCV001030444.2 | Deutetrabenazine response | Drug-Response |
RCV001093717.2 | Tamoxifen response | Drug-Response |
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.p14 chr 22 | NC_000022.11:g.42130692= | NC_000022.11:g.42130692G>A | NC_000022.11:g.42130692G>C |
gene/pseudogene RefSeqGene (LRG_303) | NG_008376.4:g.5119= | NG_008376.4:g.5119C>T | NG_008376.4:g.5119C>G |
CYP2D6 transcript variant 1 | NM_000106.6:c.100= | NM_000106.6:c.100C>T | NM_000106.6:c.100C>G |
CYP2D6 transcript variant 1 | NM_000106.5:c.100= | NM_000106.5:c.100C>T | NM_000106.5:c.100C>G |
CYP2D6 transcript variant 2 | NM_001025161.3:c.100= | NM_001025161.3:c.100C>T | NM_001025161.3:c.100C>G |
CYP2D6 transcript variant 2 | NM_001025161.2:c.100= | NM_001025161.2:c.100C>T | NM_001025161.2:c.100C>G |
GRCh38.p14 chr 22 novel patch HSCHR22_8_CTG1 | NW_015148968.1:g.8433A>G | NW_015148968.1:g.8433= | NW_015148968.1:g.8433A>C |
GRCh38.p14 chr 22 novel patch HSCHR22_7_CTG1 | NW_014040931.1:g.24281A>G | NW_014040931.1:g.24281= | NW_014040931.1:g.24281A>C |
GRCh38.p14 chr 22 novel patch HSCHR22_5_CTG1 | NW_009646208.1:g.16258A>G | NW_009646208.1:g.16258= | NW_009646208.1:g.16258A>C |
GRCh38.p14 chr 22 alt locus HSCHR22_2_CTG1 | NW_004504305.1:g.53019A>G | NW_004504305.1:g.53019= | NW_004504305.1:g.53019A>C |
GRCh38.p14 chr 22 alt locus HSCHR22_3_CTG1 | NT_187682.1:g.53033= | NT_187682.1:g.53033G>A | NT_187682.1:g.53033G>C |
GRCh37.p13 chr 22 | NC_000022.10:g.42526694= | NC_000022.10:g.42526694G>A | NC_000022.10:g.42526694G>C |
cytochrome P450 2D6 isoform 1 | NP_000097.3:p.Pro34= | NP_000097.3:p.Pro34Ser | NP_000097.3:p.Pro34Ala |
cytochrome P450 2D6 isoform 2 | NP_001020332.2:p.Pro34= | NP_001020332.2:p.Pro34Ser | NP_001020332.2:p.Pro34Ala |
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#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | CMGMM | ss869826 | Oct 13, 2000 (86) |
2 | LEE | ss1539421 | Oct 13, 2000 (86) |
3 | BIOVENTURES | ss32476023 | May 24, 2005 (125) |
4 | SSAHASNP | ss35370007 | May 24, 2005 (125) |
5 | PHARMGKB_COBRA | ss69365533 | May 17, 2007 (127) |
6 | HGSV | ss77270115 | Dec 07, 2007 (129) |
7 | HGSV | ss78155853 | Dec 07, 2007 (129) |
8 | PHARMGKB_AB_DME | ss84158081 | Dec 15, 2007 (130) |
9 | CORNELL | ss86237398 | Mar 23, 2008 (129) |
10 | BCMHGSC_JDW | ss91930857 | Mar 24, 2008 (129) |
11 | 1000GENOMES | ss112671852 | Jan 25, 2009 (130) |
12 | ILLUMINA-UK | ss117416821 | Feb 14, 2009 (130) |
13 | ENSEMBL | ss138360510 | Dec 01, 2009 (131) |
14 | ILLUMINA | ss152798072 | Dec 01, 2009 (131) |
15 | GMI | ss157217285 | Dec 01, 2009 (131) |
16 | ILLUMINA | ss159137620 | Dec 01, 2009 (131) |
17 | SEATTLESEQ | ss159744647 | Dec 01, 2009 (131) |
18 | EGP_SNPS | ss159831267 | Dec 01, 2009 (131) |
19 | ILLUMINA | ss159912066 | Dec 01, 2009 (131) |
20 | OMICIA | ss169703608 | Feb 13, 2013 (137) |
21 | ILLUMINA | ss170407354 | Jul 04, 2010 (132) |
22 | 1000GENOMES | ss228698365 | Jul 14, 2010 (132) |
23 | 1000GENOMES | ss238081975 | Jul 15, 2010 (132) |
24 | 1000GENOMES | ss244197297 | Jul 15, 2010 (132) |
25 | OMIM-CURATED-RECORDS | ss275514387 | Nov 22, 2010 (133) |
26 | GMI | ss283649257 | May 04, 2012 (137) |
27 | PJP | ss292767926 | May 09, 2011 (134) |
28 | NHLBI-ESP | ss342544650 | May 09, 2011 (134) |
29 | ILLUMINA | ss479714162 | Sep 08, 2015 (146) |
30 | 1000GENOMES | ss491194355 | May 04, 2012 (137) |
31 | EXOME_CHIP | ss491572634 | May 04, 2012 (137) |
32 | CLINSEQ_SNP | ss491825753 | May 04, 2012 (137) |
33 | TISHKOFF | ss566667094 | Apr 25, 2013 (138) |
34 | SSMP | ss662596383 | Apr 25, 2013 (138) |
35 | ILLUMINA | ss832650280 | Jul 13, 2019 (153) |
36 | EVA-GONL | ss995393826 | Aug 21, 2014 (142) |
37 | JMKIDD_LAB | ss1067607090 | Aug 21, 2014 (142) |
38 | JMKIDD_LAB | ss1082687840 | Aug 21, 2014 (142) |
39 | 1000GENOMES | ss1367336245 | Aug 21, 2014 (142) |
40 | DDI | ss1429268141 | Apr 01, 2015 (144) |
41 | EVA_FINRISK | ss1584128346 | Apr 01, 2015 (144) |
42 | EVA_EXAC | ss1694379697 | Apr 01, 2015 (144) |
43 | EVA_MGP | ss1711571603 | Apr 01, 2015 (144) |
44 | HAMMER_LAB | ss1809806591 | Sep 08, 2015 (146) |
45 | WEILL_CORNELL_DGM | ss1938961323 | Feb 12, 2016 (147) |
46 | ILLUMINA | ss1959984055 | Feb 12, 2016 (147) |
47 | JJLAB | ss2030253510 | Sep 14, 2016 (149) |
48 | USC_VALOUEV | ss2158873734 | Dec 20, 2016 (150) |
49 | SYSTEMSBIOZJU | ss2629622778 | Nov 08, 2017 (151) |
50 | ILLUMINA | ss2635112635 | Nov 08, 2017 (151) |
51 | GRF | ss2704626619 | Nov 08, 2017 (151) |
52 | GNOMAD | ss2745192272 | Nov 08, 2017 (151) |
53 | GNOMAD | ss2750571891 | Nov 08, 2017 (151) |
54 | AFFY | ss2985240517 | Nov 08, 2017 (151) |
55 | AFFY | ss2985857686 | Nov 08, 2017 (151) |
56 | SWEGEN | ss3019375586 | Nov 08, 2017 (151) |
57 | ILLUMINA | ss3022190910 | Nov 08, 2017 (151) |
58 | EVA_SAMSUNG_MC | ss3023073587 | Nov 08, 2017 (151) |
59 | BIOINF_KMB_FNS_UNIBA | ss3028962583 | Nov 08, 2017 (151) |
60 | CSIRBIOHTS | ss3029638788 | Nov 08, 2017 (151) |
61 | CSHL | ss3352855512 | Nov 08, 2017 (151) |
62 | ILLUMINA | ss3636565851 | Oct 12, 2018 (152) |
63 | ILLUMINA | ss3638385699 | Oct 12, 2018 (152) |
64 | OMUKHERJEE_ADBS | ss3646568249 | Oct 12, 2018 (152) |
65 | ILLUMINA | ss3652655262 | Oct 12, 2018 (152) |
66 | ILLUMINA | ss3654008772 | Oct 12, 2018 (152) |
67 | ACPOP | ss3743969290 | Jul 13, 2019 (153) |
68 | EVA | ss3759434329 | Jul 13, 2019 (153) |
69 | PACBIO | ss3788837927 | Jul 13, 2019 (153) |
70 | PACBIO | ss3793701149 | Jul 13, 2019 (153) |
71 | PACBIO | ss3798587631 | Jul 13, 2019 (153) |
72 | KHV_HUMAN_GENOMES | ss3822593699 | Jul 13, 2019 (153) |
73 | EVA | ss3825454913 | Apr 27, 2020 (154) |
74 | EVA | ss3825534334 | Apr 27, 2020 (154) |
75 | EVA | ss3825548564 | Apr 27, 2020 (154) |
76 | EVA | ss3825972722 | Apr 27, 2020 (154) |
77 | EVA | ss3836012252 | Apr 27, 2020 (154) |
78 | EVA | ss3841634495 | Apr 27, 2020 (154) |
79 | EVA | ss3847149711 | Apr 27, 2020 (154) |
80 | SGDP_PRJ | ss3890637751 | Apr 27, 2020 (154) |
81 | KRGDB | ss3941035084 | Apr 27, 2020 (154) |
82 | FSA-LAB | ss3984237353 | Apr 26, 2021 (155) |
83 | EVA | ss3984761205 | Apr 26, 2021 (155) |
84 | EVA | ss3986088130 | Apr 26, 2021 (155) |
85 | EVA | ss3986866519 | Apr 26, 2021 (155) |
86 | VINODS | ss4034712638 | Apr 26, 2021 (155) |
87 | VINODS | ss4034758268 | Apr 26, 2021 (155) |
88 | TOPMED | ss5110781403 | Apr 26, 2021 (155) |
89 | TOMMO_GENOMICS | ss5232837310 | Apr 26, 2021 (155) |
90 | EVA | ss5236992034 | Apr 26, 2021 (155) |
91 | EVA | ss5237676626 | Oct 16, 2022 (156) |
92 | 1000G_HIGH_COVERAGE | ss5311255747 | Oct 16, 2022 (156) |
93 | EVA | ss5441587772 | Oct 16, 2022 (156) |
94 | HUGCELL_USP | ss5503082746 | Oct 16, 2022 (156) |
95 | EVA | ss5512393117 | Oct 16, 2022 (156) |
96 | 1000G_HIGH_COVERAGE | ss5618884945 | Oct 16, 2022 (156) |
97 | EVA | ss5624123293 | Oct 16, 2022 (156) |
98 | SANFORD_IMAGENETICS | ss5664576784 | Oct 16, 2022 (156) |
99 | TOMMO_GENOMICS | ss5794029320 | Oct 16, 2022 (156) |
100 | EVA | ss5799405134 | Oct 16, 2022 (156) |
101 | YY_MCH | ss5818748131 | Oct 16, 2022 (156) |
102 | EVA | ss5822131270 | Oct 16, 2022 (156) |
103 | EVA | ss5848570346 | Oct 16, 2022 (156) |
104 | EVA | ss5853409973 | Oct 16, 2022 (156) |
105 | EVA | ss5936580654 | Oct 16, 2022 (156) |
106 | EVA | ss5959434949 | Oct 16, 2022 (156) |
107 | EVA | ss5979638971 | Oct 16, 2022 (156) |
108 | EVA | ss5981139012 | Oct 16, 2022 (156) |
109 | 1000Genomes | NC_000022.10 - 42526694 | Oct 12, 2018 (152) |
110 | 1000Genomes_30x | NC_000022.11 - 42130692 | Oct 16, 2022 (156) |
111 | ExAC | NC_000022.10 - 42526694 | Oct 12, 2018 (152) |
112 | FINRISK | NC_000022.10 - 42526694 | Apr 27, 2020 (154) |
113 | gnomAD - Genomes | NC_000022.11 - 42130692 | Apr 26, 2021 (155) |
114 | gnomAD - Exomes | NC_000022.10 - 42526694 | Jul 13, 2019 (153) |
115 | Genome of the Netherlands Release 5 | NC_000022.10 - 42526694 | Apr 27, 2020 (154) |
116 | KOREAN population from KRGDB | NC_000022.10 - 42526694 | Apr 27, 2020 (154) |
117 | Medical Genome Project healthy controls from Spanish population | NC_000022.10 - 42526694 | Apr 27, 2020 (154) |
118 | Northern Sweden | NC_000022.10 - 42526694 | Jul 13, 2019 (153) |
119 | CNV burdens in cranial meningiomas | NC_000022.10 - 42526694 | Apr 26, 2021 (155) |
120 | PharmGKB Aggregated | NC_000022.11 - 42130692 | Apr 27, 2020 (154) |
121 | Qatari | NC_000022.10 - 42526694 | Apr 27, 2020 (154) |
122 | SGDP_PRJ | NC_000022.10 - 42526694 | Apr 27, 2020 (154) |
123 | Siberian | NC_000022.10 - 42526694 | Apr 27, 2020 (154) |
124 | 8.3KJPN | NC_000022.10 - 42526694 | Apr 26, 2021 (155) |
125 | 14KJPN | NC_000022.11 - 42130692 | Oct 16, 2022 (156) |
126 | TopMed | NC_000022.11 - 42130692 | Apr 26, 2021 (155) |
127 | A Vietnamese Genetic Variation Database | NC_000022.10 - 42526694 | Jul 13, 2019 (153) |
128 | ALFA | NC_000022.11 - 42130692 | Apr 26, 2021 (155) |
129 | ClinVar | RCV000018389.23 | Oct 12, 2018 (152) |
130 | ClinVar | RCV000603460.1 | Oct 12, 2018 (152) |
131 | ClinVar | RCV000734607.3 | Oct 16, 2022 (156) |
132 | ClinVar | RCV001029560.2 | Oct 16, 2022 (156) |
133 | ClinVar | RCV001030444.2 | Oct 16, 2022 (156) |
134 | ClinVar | RCV001093717.2 | Oct 16, 2022 (156) |
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) |
---|---|
rs58862176 | May 25, 2008 (130) |
rs117813846 | Aug 16, 2010 (132) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
ss35370007, ss77270115, ss78155853 | NC_000022.8:40851191:G:A | NC_000022.11:42130691:G:A | (self) |
ss91930857, ss112671852, ss117416821, ss283649257, ss292767926, ss491825753, ss2635112635 | NC_000022.9:40856637:G:A | NC_000022.11:42130691:G:A | (self) |
80894667, 5963030, 124807, 14525070, 19935877, 48212478, 687363, 17254155, 310793, 21003245, 42654731, 11390088, 90806617, 9868434, ss228698365, ss238081975, ss244197297, ss342544650, ss479714162, ss491194355, ss491572634, ss566667094, ss662596383, ss832650280, ss995393826, ss1067607090, ss1082687840, ss1367336245, ss1429268141, ss1584128346, ss1694379697, ss1711571603, ss1809806591, ss1938961323, ss1959984055, ss2030253510, ss2158873734, ss2629622778, ss2704626619, ss2745192272, ss2750571891, ss2985240517, ss2985857686, ss3019375586, ss3022190910, ss3023073587, ss3029638788, ss3352855512, ss3636565851, ss3638385699, ss3646568249, ss3652655262, ss3654008772, ss3743969290, ss3759434329, ss3788837927, ss3793701149, ss3798587631, ss3825454913, ss3825534334, ss3825548564, ss3825972722, ss3836012252, ss3841634495, ss3890637751, ss3941035084, ss3984237353, ss3984761205, ss3986088130, ss3986866519, ss5232837310, ss5441587772, ss5512393117, ss5624123293, ss5664576784, ss5799405134, ss5822131270, ss5848570346, ss5936580654, ss5959434949, ss5979638971, ss5981139012 | NC_000022.10:42526693:G:A | NC_000022.11:42130691:G:A | (self) |
RCV000018389.23, RCV000603460.1, RCV000734607.3, RCV001029560.2, RCV001030444.2, RCV001093717.2, 106410880, 571270589, 7685, 127866424, 385890350, 12202138094, ss169703608, ss275514387, ss3028962583, ss3822593699, ss3847149711, ss5110781403, ss5236992034, ss5237676626, ss5311255747, ss5503082746, ss5618884945, ss5794029320, ss5818748131, ss5853409973 | NC_000022.11:42130691:G:A | NC_000022.11:42130691:G:A | (self) |
ss869826, ss1539421, ss32476023, ss69365533, ss84158081, ss86237398, ss138360510, ss152798072, ss157217285, ss159137620, ss159744647, ss159831267, ss159912066, ss170407354 | NT_011520.12:21917262:G:A | NC_000022.11:42130691:G:A | (self) |
ss4034758268 | NT_187682.1:53032:G:A | NC_000022.11:42130691:G:A | (self) |
ss4034712638 | NW_004504305.1:53018:A:A | NC_000022.11:42130691:G:A | (self) |
48212478, ss3941035084 | NC_000022.10:42526693:G:C | NC_000022.11:42130691:G:C | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
PMID | Title | Author | Year | Journal |
---|---|---|---|---|
2211621 | Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes. | Kagimoto M et al. | 1990 | The Journal of biological chemistry |
12051754 | CYP2D6.10 present in human liver microsomes shows low catalytic activity and thermal stability. | Nakamura K et al. | 2002 | Biochemical and biophysical research communications |
18547414 | Genotyping panel for assessing response to cancer chemotherapy. | Dai Z et al. | 2008 | BMC medical genomics |
18698231 | Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. | Johnson AD et al. | 2008 | Pharmacogenetics and genomics |
19164093 | Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects. | Matimba A et al. | 2009 | Human genomics |
19639055 | ||||
20174590 | Response to serotonin reuptake inhibitors in OCD is not influenced by common CYP2D6 polymorphisms. | Van Nieuwerburgh FC et al. | 2009 | International journal of psychiatry in clinical practice |
20548328 | High-efficiency genotype analysis from formalin-fixed, paraffin-embedded tumor tissues. | Sikora MJ et al. | 2011 | The pharmacogenomics journal |
20847277 | Genotyping of DNA samples isolated from formalin-fixed paraffin-embedded tissues using preamplification. | Baak-Pablo R et al. | 2010 | The Journal of molecular diagnostics |
20921971 | Mapping genes that predict treatment outcome in admixed populations. | Baye TM et al. | 2010 | The pharmacogenomics 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 |
21790905 | CYP2B6 SNPs are associated with methadone dose required for effective treatment of opioid addiction. | Levran O et al. | 2013 | Addiction biology |
21840870 | Association of ABCB1, 5-HT3B receptor and CYP2D6 genetic polymorphisms with ondansetron and metoclopramide antiemetic response in Indonesian cancer patients treated with highly emetogenic chemotherapy. | Perwitasari DA et al. | 2011 | Japanese journal of clinical oncology |
22183189 | The risk of recurrence in breast cancer patients treated with tamoxifen: polymorphisms of CYP2D6 and ABCB1. | Teh LK et al. | 2012 | The AAPS journal |
22479249 | Whole genome amplification of DNA for genotyping pharmacogenetics candidate genes. | Philips S et al. | 2012 | Frontiers in pharmacology |
22482072 | Genomics of Dementia: APOE- and CYP2D6-Related Pharmacogenetics. | Cacabelos R et al. | 2012 | International journal of Alzheimer's disease |
22552919 | Bioinformatics and variability in drug response: a protein structural perspective. | Lahti JL et al. | 2012 | Journal of the Royal Society, Interface |
23133420 | Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin. | Suarez-Kurtz G et al. | 2012 | Frontiers in pharmacology |
23207012 | Reduced CYP2D6 function is associated with gefitinib-induced rash in patients with non-small cell lung cancer. | Suzumura T et al. | 2012 | BMC cancer |
24798984 | Developing and Evaluating the HRM Technique for Identifying Cytochrome P450 2D6 Polymorphisms. | Lu HC et al. | 2015 | Journal of clinical laboratory analysis |
24868171 | Possible impact of the CYP2D6*10 polymorphism on the nonlinear pharmacokinetic parameter estimates of paroxetine in Japanese patients with major depressive disorders. | Saruwatari J et al. | 2014 | Pharmacogenomics and personalized medicine |
24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
25159483 | Cytochrome P450 2D6*10 genotype affects the pharmacokinetics of dimemorfan in healthy Chinese subjects. | Pei Q et al. | 2015 | European journal of drug metabolism and pharmacokinetics |
25419701 | Exploring the distribution of genetic markers of pharmacogenomics relevance in Brazilian and Mexican populations. | Bonifaz-Peña V et al. | 2014 | PloS one |
25887915 | Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan. | Ilyas M et al. | 2015 | BMC genomics |
26214065 | No influence of CYP2D6*10 genotype and phenotype on the pharmacokinetics of nebivolol in healthy Chinese subjects. | Luo X et al. | 2015 | Journal of clinical pharmacy and therapeutics |
26316040 | Association of Polymorphisms of Cytochrome P450 2D6 With Blood Hydroxychloroquine Levels in Patients With Systemic Lupus Erythematosus. | Lee JY et al. | 2016 | Arthritis & rheumatology (Hoboken, N.J.) |
26369774 | Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. | Maggo SD et al. | 2016 | Clinical pharmacokinetics |
26768225 | The roles of apolipoprotein E3 and CYP2D6 (rs1065852) gene polymorphisms in the predictability of responses to individualized therapy with donepezil in Han Chinese patients with Alzheimer's disease. | Lu J et al. | 2016 | Neuroscience letters |
26793106 | CYP2D7 Sequence Variation Interferes with TaqMan CYP2D6 (*) 15 and (*) 35 Genotyping. | Riffel AK et al. | 2015 | Frontiers in pharmacology |
26858644 | Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. | Chua EW et al. | 2016 | Frontiers in pharmacology |
27108086 | Multiplex SNaPshot-a new simple and efficient CYP2D6 and ADRB1 genotyping method. | Ben S et al. | 2016 | Human genomics |
27110117 | Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder. | Medhasi S et al. | 2016 | Neuropsychiatric disease and treatment |
27171561 | Liver Function Test Abnormalities in Depressed Patients Treated with Antidepressants: A Real-World Systematic Observational Study in Psychiatric Settings. | Voican CS et al. | 2016 | PloS one |
27228982 | Genetic polymorphisms analysis of CYP2D6 in the Uygur population. | He X et al. | 2016 | BMC genomics |
27467145 | Variation in Human Cytochrome P-450 Drug-Metabolism Genes: A Gateway to the Understanding of Plasmodium vivax Relapses. | Silvino AC et al. | 2016 | PloS one |
27529241 | The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key? | Daud AN et al. | 2016 | International journal of molecular sciences |
27536078 | Factors affecting the development of adverse drug reactions to β-blockers in hospitalized cardiac patient population. | Mugoša S et al. | 2016 | Patient preference and adherence |
27540311 | Prevalence of CYP2D6*2, CYP2D6*4, CYP2D6*10, and CYP3A5*3 in Thai breast cancer patients undergoing tamoxifen treatment. | Charoenchokthavee W et al. | 2016 | Breast cancer (Dove Medical Press) |
27636225 | An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine. | Mnika K et al. | 2016 | Omics |
27636550 | A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. | Mizzi C et al. | 2016 | PloS one |
27665849 | Influences of CYP2D6(*)10 polymorphisms on the pharmacokinetics of iloperidone and its metabolites in Chinese patients with schizophrenia: a population pharmacokinetic analysis. | Pei Q et al. | 2016 | Acta pharmacologica Sinica |
27716216 | The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum. | Gerhard GS et al. | 2016 | BMC medical genomics |
27738374 | Investigation of CYP2D6 Gene Polymorphisms in Turkish Population. | Taskin B et al. | 2016 | Psychopharmacology bulletin |
27785397 | CYP2D6 allele distribution in Macedonians, Albanians and Romanies in the Republic of Macedonia. | Kuzmanovska M et al. | 2015 | Balkan journal of medical genetics |
27942231 | CYP2D6 polymorphisms and their influence on risperidone treatment. | Puangpetch A et al. | 2016 | Pharmacogenomics and personalized medicine |
28178648 | Polymorphisms of ESR1, UGT1A1, HCN1, MAP3K1 and CYP2B6 are associated with the prognosis of hormone receptor-positive early breast cancer. | Kuo SH et al. | 2017 | Oncotarget |
28343093 | Influence of genetic variants of CYP2D6, CYP2C9, CYP2C19 and CYP3A4 on antiepileptic drug metabolism in pediatric patients with refractory epilepsy. | López-García MA et al. | 2017 | Pharmacological reports |
28603633 | In vitro metabolism of exemestane by hepatic cytochrome P450s: impact of nonsynonymous polymorphisms on formation of the active metabolite 17β-dihydroexemestane. | Peterson A et al. | 2017 | Pharmacology research & perspectives |
29180876 | The effect of CYP2D6 *10 polymorphism on adjuvant tamoxifen in Asian breast cancer patients: a meta-analysis. | Lu J et al. | 2017 | OncoTargets and therapy |
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 |
29279099 | A review of the literature on the relationships between genetic polymorphisms and chemotherapy-induced nausea and vomiting. | Singh KP et al. | 2018 | Critical reviews in oncology/hematology |
29369497 | Pharmacogenetics of Risperidone-Induced Insulin Resistance in Children and Adolescents with Autism Spectrum Disorder. | Sukasem C et al. | 2018 | Basic & clinical pharmacology & toxicology |
29500141 | Polymorphisms in CYP450 Genes and the Therapeutic Effect of Atorvastatin on Ischemic Stroke: A Retrospective Cohort Study in Chinese Population. | Peng C et al. | 2018 | Clinical therapeutics |
29736057 | A preliminary study of association of genetic variants with early response to olanzapine in schizophrenia. | Singh A et al. | 2018 | Indian journal of psychiatry |
29789925 | Associations of polymorphisms of CYP2D6 and CYP2C9 with early onset severe pre-eclampsia and response to labetalol therapy. | Sun CJ et al. | 2018 | Archives of gynecology and obstetrics |
30068618 | Cohort Profile: the Predictors of Breast Cancer Recurrence (ProBe CaRE) Premenopausal Breast Cancer Cohort Study in Denmark. | Collin LJ et al. | 2018 | BMJ open |
30093744 | A Prospective Study to Evaluate the Effect of CYP2D6 Polymorphism on Plasma level of Risperidone and its Metabolite in North Indian Patients with Schizophrenia. | Chavan BS et al. | 2018 | Indian journal of psychological medicine |
30093869 | Biological Predictors of Clozapine Response: A Systematic Review. | Samanaite R et al. | 2018 | Frontiers in psychiatry |
30593137 | Population genetic difference of pharmacogenomic VIP gene variants in the Lisu population from Yunnan Province. | Zhang C et al. | 2018 | Medicine |
30706164 | Effects of MAO-A and CYP450 on primaquine metabolism in healthy volunteers. | Ariffin NM et al. | 2019 | Parasitology research |
31019283 | Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. | Thauvin-Robinet C et al. | 2019 | European journal of human genetics |
31086207 | Implications of genetic variation of common Drug Metabolizing Enzymes and ABC Transporters among the Pakistani Population. | Afsar NA et al. | 2019 | Scientific reports |
31264381 | Gene polymorphism of cytochrome P450 significantly affects lung cancer susceptibility. | Li M et al. | 2019 | Cancer medicine |
31858263 | Defining screening panel of functional variants of CYP1A1, CYP2C9, CYP2C19, CYP2D6, and CYP3A4 genes in Serbian population. | Skadrić I et al. | 2020 | International journal of legal medicine |
32219146 | Influence of Cytochrome P450 2D6 Polymorphisms on the Efficacy of Oral Propranolol in Treating Infantile Hemangioma. | Wang L et al. | 2020 | BioMed research international |
32256400 | Analysis of the Deleterious Single-Nucleotide Polymorphisms Associated With Antidepressant Efficacy in Major Depressive Disorder. | Xin J et al. | 2020 | Frontiers in psychiatry |
32457635 | Polymorphisms of Drug-Metabolizing Enzymes and Transporters Contribute to the Individual Variations of Erlotinib Steady State Trough Concentration, Treatment Outcomes, and Adverse Reactions in Epidermal Growth Factor Receptor-Mutated Non-Small Cell Lung Cancer Patients. | Liao D et al. | 2020 | Frontiers in pharmacology |
32609646 | Five genetic polymorphisms of cytochrome P450 enzymes in the Czech non-Roma and Czech Roma population samples. | Dlouhá L et al. | 2020 | Drug metabolism and personalized therapy |
32639515 | Bayesian Pathway Analysis for Complex Interactions. | Baurley JW et al. | 2020 | American journal of epidemiology |
32681777 | Five genetic polymorphisms of cytochrome P450 enzymes in the Czech non-Roma and Czech Roma population samples. | Dlouhá L et al. | 2020 | Drug metabolism and personalized therapy |
32699276 | Genetic variation of pharmacogenomic VIP variants in Zhuang nationality of southern China. | Liu Y et al. | 2021 | The pharmacogenomics journal |
32827391 | Pharmacogenetics of antipsychotics in adolescents with acute psychotic episode during first 14 days after admission: effectiveness and safety evaluation. | Ivashchenko DV et al. | 2020 | Drug metabolism and personalized therapy |
32994732 | Bisoprolol responses (PK/PD) in hypertensive patients: A cytochrome P450 (CYP) 2D6 targeted polymorphism study. | Mohammed Alkreathy H et al. | 2020 | Saudi journal of biological sciences |
33430289 | Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans. | Han N et al. | 2021 | Journal of personalized medicine |
33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
33688237 | Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype. | Fonseca DJ et al. | 2021 | Pharmacogenomics and personalized medicine |
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 |
34115022 | Associations and interaction effects of maternal smoking and genetic polymorphisms of cytochrome P450 genes with risk of congenital heart disease in offspring: A case-control study. | Diao J et al. | 2021 | Medicine |
34302632 | The association study between CYP20A1, CYP4F2, CYP2D6 gene polymorphisms and coronary heart disease risk in the Han population in southern China. | Liang T et al. | 2022 | Genes & genomics |
34366834 | CYP2D6 Allele Frequency in Five Malaria Vivax Endemic Areas From Brazilian Amazon Region. | Salles PF et al. | 2021 | Frontiers in pharmacology |
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 |
34429635 | Population Genetic Difference of Pharmacogenomic VIP Variants in the Tibetan Population. | He C et al. | 2021 | Pharmacogenomics and personalized medicine |
34434063 | Genetic Polymorphisms of Pesticide-Metabolizing Enzymes and Transporters in Agricultural Workers and Thyroid Hormone Levels. | Sirivarasai J et al. | 2021 | Risk management and healthcare policy |
34540891 | Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk. | Li X et al. | 2021 | Frontiers in molecular biosciences |
34621706 | Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. | Kim B et al. | 2021 | Translational and clinical pharmacology |
34798807 | Genetic analysis of pharmacogenomic VIP variants in the Wa population from Yunnan Province of China. | Li D et al. | 2021 | BMC genomic data |
34823523 | Prediction of the CYP2D6 enzymatic activity based on investigating of the CYP2D6 genotypes around the vivax malaria patients in Yunnan Province, China. | Dong Y et al. | 2021 | Malaria journal |
34949935 | Genetic Polymorphisms of Very Important Pharmacogene Variants in the Blang Population from Yunnan Province in China. | Wang Y et al. | 2021 | Pharmacogenomics and personalized medicine |
34958284 | Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes. | Muyambo S et al. | 2022 | Omics |
35078561 | Association between Maternal Drug Use and Cytochrome P450 Genetic Polymorphisms and the Risk of Congenital Heart Defects in Offspring. | Qin JB et al. | 2022 | Biomedical and environmental sciences |
35401003 | CYP2D6 Gene Polymorphisms and Variable Metabolic Activity in Schizophrenia Patients of Han and Tibetan Populations. | Li YH et al. | 2022 | Neuropsychiatric disease and treatment |
35572141 | Polymorphisms of Cytochromes P450 and Glutathione S-Transferases Synergistically Modulate Risk for Parkinson's Disease. | Fan HH et al. | 2022 | Frontiers in aging neuroscience |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.
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.