Variant: 13-48002570-G-C(GRCh38)

Allele Count: 91
Allele Number: 5998
Allele Frequency: 0.0152
Number of Homozygotes: 0

Reference:

dbSNP: rs9562794

gnomAD: 13-48002570-G-C

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Genotype Quality Metrics

Site Quality Metrics

External data population frequency
DatasetPopulationPopulation abbrAllele Frequency
1KGP3East AsianEAS0.04
South AsianSAS0.1748
AfricanAFR0.0325
AmericasAMR0.0778
European ancestryEUR0.1421
total0.0897
gnomAD v3 GenomesEast AsianEAS0.0218
South AsianSAS0.1877
AficanAFR0.0544
LatinoAMR0.0802
AmishAMI0.0422
European(Finnish)FIN0.0712
European(non-Finnish)NFE0.1146
Ashkenazi JewishASJ0.2094
otherOTH0.1041
total0.0916

Region annotation
RegionGene IDGene DetailExonic functionConsequence
EnsembldownstreamSUCLA2-AS1dist=18--
RefSeqintergenicSUCLA2;NUDT15dist=1244;dist=34997--

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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