Variant: 22-42131791-C-T(GRCh38)

Allele Count: 3145
Allele Number: 5978
Allele Frequency: 0.5261
Number of Homozygotes: 913

Reference:

dbSNP: rs1080989

gnomAD: 22-42131791-C-T

Browser:

Genotype Quality Metrics

Site Quality Metrics

External data population frequency
DatasetPopulationPopulation abbrAllele Frequency
1KGP3East AsianEAS0.58
South AsianSAS0.1646
AfricanAFR0.1120
AmericasAMR0.1484
European ancestryEUR0.2018
total0.2388
gnomAD v3 GenomesEast AsianEAS0.5648
South AsianSAS0.1769
AficanAFR0.1241
LatinoAMR0.1527
AmishAMI0.3009
European(Finnish)FIN0.1110
European(non-Finnish)NFE0.2231
Ashkenazi JewishASJ0.2423
otherOTH0.1960
total0.1864

Region annotation
RegionGene IDGene DetailExonic functionConsequence
EnsemblncRNA_intronicNDUFA6-AS1---
RefSequpstreamCYP2D6;CYP2D7;LOC101929829dist=910--

Nonsynonymous impact
MethodScoreRank Scorepredicted consequence
SIFT---
PolyPhen2_HDIV---
PolyPhen2_HVAR---
FATHMM---
CADD---

Clinical annotation
ClinVar SignificanceClinVar Disease NameClinVar Allele IDTag-value
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Loss of function predict

Loss of Function (LoF) variants are indentified by package LOFTEE developed recently by gnomAD group to assess stop-gained, splice site disrupting and frameshift variants as “low-confidence” (LC) or “high-confidence” (HC) LoF variants.

LoFLoF_filterLoF_flagsLoF_info
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Pharmacogenomics
Belong to HaplotypeDrugGuideineURLCPIC_LevelPharmGKB_Level_of_EvidencePGx_on_
FDA_Label
CPIC_Publications
_PMID
CYP2D6*100atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*100codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*100ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*100tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*100fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*100clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*101atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*101codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*101ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*101tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*101fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*101clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*10atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*10codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*10ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*10tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*10fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*10clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*36atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*36codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*36ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*36tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*36fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*36clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*47atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*47codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*47ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*47tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*47fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*47clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*49atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*49codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*49ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*49tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*49fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*49clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*4atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*4codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*4ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*4tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*4fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*4clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*52atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*52codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*52ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*52tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*52fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*52clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*56atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*56codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*56ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*56tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*56fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*56clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*64atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*64codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*64ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*64tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*64fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*64clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*69atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*69codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*69ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*69tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*69fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*69clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*72atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*72codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*72ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*72tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*72fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*72clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*99atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*99codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*99ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*99tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*99fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*99clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040