Variant: 22-42129033-C-T(GRCh38)

Allele Count: 105
Allele Number: 5976
Allele Frequency: 0.0176
Number of Homozygotes: 9

Reference:

dbSNP: rs5030865

gnomAD: 22-42129033-C-T

Browser:

Genotype Quality Metrics

Site Quality Metrics

External data population frequency
DatasetPopulationPopulation abbrAllele Frequency
1KGP3East AsianEAS9.9000e-3
South AsianSAS0.0
AfricanAFR0.0
AmericasAMR0.0
European ancestryEUR0.0
total1.9968e-3
gnomAD v3 GenomesEast AsianEAS0.0122
South AsianSAS0.0
AficanAFR0.0
LatinoAMR0.0
AmishAMI0.0
European(Finnish)FIN0.0
European(non-Finnish)NFE0.0
Ashkenazi JewishASJ0.0
otherOTH4.6555e-4
total2.7352e-4

Region annotation
RegionGene IDGene DetailExonic functionConsequence
EnsemblexonicCYP2D6-nonsynonymous SNVCYP2D6:ENST00000389970.7:exon3:c.G439A:p.G147R
RefSeqexonicCYP2D6;CYP2D7-nonsynonymous SNVCYP2D6:NM_000106:exon3:c.G505A:p.G169R

Nonsynonymous impact
MethodScoreRank Scorepredicted consequence
SIFT0.0190.501D
PolyPhen2_HDIV0.9980.715D
PolyPhen2_HVAR0.8920.615P
FATHMM-1.70.831D
CADD4.6020.61624.4

Clinical annotation
ClinVar SignificanceClinVar Disease NameClinVar Allele IDTag-value
othernot_provided47999MedGen:CN517202

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*114atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*114codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*114ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*114tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*114fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*114clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040
CYP2D6*14atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*14codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*14ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*14tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*14fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*14clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040