Variant: 22-42130793-C-G(GRCh38)

Allele Count: 3
Allele Number: 5980
Allele Frequency: 5.0167e-4
Number of Homozygotes: 0

Reference:

Browser:

Genotype Quality Metrics

Site Quality Metrics

External data population frequency
DatasetPopulationPopulation abbrAllele Frequency
1KGP3East AsianEAS0.0
South AsianSAS0.0
AfricanAFR8.0000e-4
AmericasAMR0.0
European ancestryEUR0.0
total1.9968e-4
gnomAD v3 GenomesEast AsianEAS3.2092e-4
South AsianSAS3.3311e-4
AficanAFR1.1377e-3
LatinoAMR0.0
AmishAMI0.0
European(Finnish)FIN0.0
European(non-Finnish)NFE1.5550e-4
Ashkenazi JewishASJ0.0
otherOTH0.0
total4.1515e-4

Region annotation
RegionGene IDGene DetailExonic functionConsequence
EnsemblncRNA_intronicNDUFA6-AS1---
RefSeqncRNA_exonicLOC101929829---

Nonsynonymous impact
MethodScoreRank Scorepredicted consequence
SIFT---
PolyPhen2_HDIV---
PolyPhen2_HVAR---
FATHMM---
CADD---

Clinical annotation
ClinVar SignificanceClinVar Disease NameClinVar Allele IDTag-value
----

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
----

Pharmacogenomics
Belong to HaplotypeDrugGuideineURLCPIC_LevelPharmGKB_Level
_of_Evidence
PGx_on_FDA
_Label
CPIC_Publications_PMID
--------