Variant: 22-42129796-G-C(GRCh38)

Allele Count: 23
Allele Number: 5976
Allele Frequency: 3.8487e-3
Number of Homozygotes: 0

Reference:

dbSNP: rs28371705

gnomAD: 22-42129796-G-C

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Genotype Quality Metrics

Site Quality Metrics

External data population frequency
DatasetPopulationPopulation abbrAllele Frequency
1KGP3East AsianEAS2.0000e-3
South AsianSAS0.0818
AfricanAFR0.0204
AmericasAMR0.0980
European ancestryEUR0.1769
total0.0709
gnomAD v3 GenomesEast AsianEAS3.2134e-3
South AsianSAS0.0913
AficanAFR0.0397
LatinoAMR0.1061
AmishAMI0.2420
European(Finnish)FIN0.0932
European(non-Finnish)NFE0.1952
Ashkenazi JewishASJ0.1881
otherOTH0.1262
total0.1265

Region annotation
RegionGene IDGene DetailExonic functionConsequence
EnsemblexonicCYP2D6-synonymous SNVCYP2D6:ENST00000359033.4:exon2:c.C294G:p.T98T,CYP2D6:ENST00000389970.7:exon2:c.C228G:p.T76T
RefSeqexonicCYP2D6;CYP2D7-synonymous SNVCYP2D6:NM_000106:exon2:c.C294G:p.T98T,CYP2D6:NM_001025161:exon2:c.C294G:p.T98T

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*2atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*2codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*2ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*2tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*2fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*2clomipramineCYP2D6, 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*82atomoxetineCYP2D6 and Atomoxetinehttps://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/A1AActionable PGx30801677
CYP2D6*82codeineCYP2D6 and Codeinehttps://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/A1AActionable PGx22205192;24458010
CYP2D6*82ondansetronCYP2D6 and Ondansetron and Tropisetronhttps://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/A1AInformative PGx28002639
CYP2D6*82tamoxifenCYP2D6 and Tamoxifenhttps://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/A1AActionable PGx29385237
CYP2D6*82fluvoxamineCYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitorshttps://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/A1AActionable PGx25974703
CYP2D6*82clomipramineCYP2D6, CYP2C19 and Tricyclic Antidepressantshttps://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/B1AActionable PGx23486447;27997040