Variant: 13-48045785-G-A(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 AsianEAS-
South AsianSAS-
AfricanAFR-
AmericasAMR-
European ancestryEUR-
total-
gnomAD v3 GenomesEast AsianEAS0.0
South AsianSAS0.0
AficanAFR2.3814e-5
LatinoAMR0.0
AmishAMI0.0
European(Finnish)FIN0.0
European(non-Finnish)NFE0.0
Ashkenazi JewishASJ0.0
otherOTH0.0
total6.9845e-6

Region annotation
RegionGene IDGene DetailExonic functionConsequence
EnsemblexonicNUDT15-unknownUNKNOWN
RefSeqexonicNUDT15-nonsynonymous SNVNUDT15:NM_018283:exon3:c.G481A:p.G161R

Nonsynonymous impact
MethodScoreRank Scorepredicted consequence
SIFT0.0180.506D
PolyPhen2_HDIV0.9970.689D
PolyPhen2_HVAR0.9270.644D
FATHMM1.470.320T
CADD6.6860.91532

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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