Variant: 13-48002721-A-C(GRCh38)

Allele Count: 3
Allele Number: 5998
Allele Frequency: 5.0017e-4
Number of Homozygotes: 0

Reference:

dbSNP: -

gnomAD: 13-48002721-A-C

Browser:

Genotype Quality Metrics

Site Quality Metrics

External data population frequency
DatasetPopulationPopulation abbrAllele Frequency
1KGP3East AsianEAS-
South AsianSAS-
AfricanAFR-
AmericasAMR-
European ancestryEUR-
total-
gnomAD v3 GenomesEast AsianEAS-
South AsianSAS-
AficanAFR-
LatinoAMR-
AmishAMI-
European(Finnish)FIN-
European(non-Finnish)NFE-
Ashkenazi JewishASJ-
otherOTH-
total-

Region annotation
RegionGene IDGene DetailExonic functionConsequence
EnsembldownstreamSUCLA2-AS1dist=169--
RefSeqintergenicSUCLA2;NUDT15dist=1395;dist=34846--

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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