Variant: 13-48020264-G-GTT(GRCh38)

Allele Count: 142
Allele Number: 5646
Allele Frequency: 0.0252
Number of Homozygotes: 1

This variant is multiallelic. Others alt alleles are:

Reference:

dbSNP: -

gnomAD: 13-48020264-G-GTT

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External data population frequency
DatasetPopulationPopulation abbrAllele Frequency
1KGP3East AsianEAS-
South AsianSAS-
AfricanAFR-
AmericasAMR-
European ancestryEUR-
total-
gnomAD v3 GenomesEast AsianEAS2.4319e-3
South AsianSAS0.0243
AficanAFR1.3501e-3
LatinoAMR2.9240e-3
AmishAMI0.0
European(Finnish)FIN8.4746e-4
European(non-Finnish)NFE1.5224e-3
Ashkenazi JewishASJ3.6576e-4
otherOTH3.8285e-3
total1.9648e-3

Region annotation
RegionGene IDGene DetailExonic functionConsequence
EnsemblintergenicSUCLA2-AS1;NUDT15dist=17712;dist=17303--
RefSeqintergenicSUCLA2;NUDT15dist=18938;dist=17303--

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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