Variant: 13-48045806-G-A(GRCh38)

Allele Count: 4
Allele Number: 5998
Allele Frequency: 6.6689e-4
Number of Homozygotes: 0

Reference:

dbSNP: rs61973267

gnomAD: 13-48045806-G-A

Browser:

Genotype Quality Metrics

Site Quality Metrics

External data population frequency
DatasetPopulationPopulation abbrAllele Frequency
1KGP3East AsianEAS0.0
South AsianSAS0.0327
AfricanAFR4.5000e-3
AmericasAMR0.1009
European ancestryEUR0.0616
total0.0339
gnomAD v3 GenomesEast AsianEAS3.1949e-4
South AsianSAS0.0303
AficanAFR0.0148
LatinoAMR0.1126
AmishAMI0.1044
European(Finnish)FIN0.1100
European(non-Finnish)NFE0.0662
Ashkenazi JewishASJ0.0479
otherOTH0.0493
total0.0561

Region annotation
RegionGene IDGene DetailExonic functionConsequence
EnsemblUTR3NUDT15ENST00000258662.2:c.*7G>A--
RefSeqUTR3NUDT15NM_018283:c.*7G>A--

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_EvidencePGx_on_
FDA_Label
CPIC_Publications
_PMID
NUDT15*1thioguanineTPMT, NUDT15 and Thiopurineshttps://cpicpgx.org/guidelines/guideline-for-thiopurines-and-tpmt/A-Testing recommended21270794;23422873;30447069