Variant: 22-42129675-G-A(GRCh38)

Allele Count: 0
Allele Number: 5978
Allele Frequency: 0.0
Number of Homozygotes: 0

This variant is multiallelic. Others alt alleles are:

Reference:

dbSNP: rs77449786

gnomAD: -

Browser:

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External data population frequency
DatasetPopulationPopulation abbrAllele Frequency
1KGP3East AsianEAS-
South AsianSAS-
AfricanAFR-
AmericasAMR-
European ancestryEUR-
total-
gnomAD v3 GenomesEast AsianEAS0.0
South AsianSAS3.3113e-4
AficanAFR0.0
LatinoAMR4.2628e-3
AmishAMI0.0
European(Finnish)FIN7.6467e-4
European(non-Finnish)NFE1.5528e-5
Ashkenazi JewishASJ0.0
otherOTH0.0
total4.7710e-4

Region annotation
RegionGene IDGene DetailExonic functionConsequence
EnsemblncRNA_intronicNDUFA6-AS1---
RefSeqncRNA_intronicLOC101929829---

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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