Variant: 22-42126663-G-C(GRCh38)

Allele Count: 1
Allele Number: 5970
Allele Frequency: 1.6750e-4
Number of Homozygotes: 0

Reference:

dbSNP: rs1135833

gnomAD: 22-42126663-G-C

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External data population frequency
DatasetPopulationPopulation abbrAllele Frequency
1KGP3East AsianEAS-
South AsianSAS-
AfricanAFR-
AmericasAMR-
European ancestryEUR-
total-
gnomAD v3 GenomesEast AsianEAS3.2363e-4
South AsianSAS0.0
AficanAFR1.4558e-4
LatinoAMR7.3670e-5
AmishAMI0.0
European(Finnish)FIN0.0
European(non-Finnish)NFE6.2257e-5
Ashkenazi JewishASJ0.0
otherOTH4.6860e-4
total9.1597e-5

Region annotation
RegionGene IDGene DetailExonic functionConsequence
EnsemblexonicCYP2D6-nonsynonymous SNVCYP2D6:ENST00000359033.4:exon8:c.C1252G:p.P418A,CYP2D6:ENST00000389970.7:exon10:c.C1396G:p.P466A
RefSeqexonicCYP2D6;CYP2D7-nonsynonymous SNVCYP2D6:NM_001025161:exon8:c.C1252G:p.P418A,CYP2D6:NM_000106:exon9:c.C1405G:p.P469A

Nonsynonymous impact
MethodScoreRank Scorepredicted consequence
SIFT0.0310.450D
PolyPhen2_HDIV0.4070.332B
PolyPhen2_HVAR0.3620.437B
FATHMM-0.520.707T
CADD1.2730.21812.13

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*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*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*57atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*57codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*57ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*57tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*57fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*57clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*83atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*83codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*83ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*83tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*83fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*83clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040