12:21643763 G / A

dbSNP
rs111989066
Allele Frequency
0.02579
Allele Count
62 / 2404
UCSC
12-21643763-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
1613.16
Filter Status
PASS
 Note: These are site-level quality metrics: they may be unpredictable for multi-allelic sites.
Population Frequencies
Population Allele Count Allele Number Number of Homozygotes Number of Heterozygotes Homozygous Genotype Freq. Heterozygous Genotype Freq. Allele Frequency
Arab 8 204 3 2 0.0294 0.0196 0.03922
Azeri 5 200 2 1 0.02 0.01 0.025
Baloch 6 202 3 0 0.0297 0.0 0.0297
Gilaki 5 198 2 1 0.0202 0.0101 0.02525
Kurd 10 200 5 0 0.05 0.0 0.05
Lur 8 200 4 0 0.04 0.0 0.04
Mazani 6 200 1 4 0.01 0.04 0.03
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 0 200 0 0 0.0 0.0 0
Turkmen 4 200 2 0 0.02 0.0 0.02
Zartoshti 6 200 2 2 0.02 0.02 0.03
Total 62 2404 26 10 0.021630615640599003 0.008319467554076539 0.02579
Annotations

This variant falls on 8 transcripts in 1 genes:

Note: This list may not include additional transcripts in the same gene that the variant does not overlap.

Additional Annotations
Metric Prediction
SIFT Pred (C) ?
Polyphen2 HVAR Pred (C) ?
MutationTaster Pred (C) ?
MutationAssessor Pred (C) ?
FATHMM Pred (C) ?
FATHMM MKL Coding Pred (C) ?
N of 6 Predicted Damaging ?
N of 6 Predicted Tolerated ?
MetaSVM Pred ?
MetaLR Pred ?
GERP++ RS ?
CADD Score (Phred Scale) 2.085
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score ?

Quality Metrics

Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above