Variant: 13-48037208-C-G(GRCh38)

Allele Count: 1
Allele Number: 5998
Allele Frequency: 1.6672e-4
Number of Homozygotes: 0

Reference:

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External data population frequency
DatasetPopulationPopulation abbrAllele Frequency
1KGP3East AsianEAS0.0
South AsianSAS5.1000e-3
AfricanAFR0.0
AmericasAMR0.0
European ancestryEUR0.0
total9.9840e-4
gnomAD v3 GenomesEast AsianEAS0.0
South AsianSAS3.9370e-3
AficanAFR0.0
LatinoAMR0.0
AmishAMI0.0
European(Finnish)FIN0.0
European(non-Finnish)NFE1.5487e-5
Ashkenazi JewishASJ0.0
otherOTH0.0
total9.0730e-5

Region annotation
RegionGene IDGene DetailExonic functionConsequence
EnsemblupstreamNUDT15dist=359--
RefSequpstreamNUDT15dist=359--

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_Evidence
PGx_on_FDA
_Label
CPIC_Publications_PMID
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