12:21644429 _ / A

dbSNP
rs140439673
Allele Frequency
0.04534
Allele Count
109 / 2404
UCSC
12-21644429-_-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
19539.0
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 0 8 0.0 0.0784 0.03922
Azeri 4 200 2 0 0.02 0.0 0.02
Baloch 10 202 1 8 0.0099 0.0792 0.0495
Gilaki 1 198 0 1 0.0 0.0101 0.005051
Kurd 7 200 1 5 0.01 0.05 0.035
Lur 9 200 3 3 0.03 0.03 0.045
Mazani 24 200 0 24 0.0 0.24 0.12
Persian 1 200 0 1 0.0 0.01 0.005
Persian Gulf Islander 6 200 0 6 0.0 0.06 0.03
Sistani 13 200 0 13 0.0 0.13 0.065
Turkmen 1 200 0 1 0.0 0.01 0.005
Zartoshti 25 200 2 21 0.02 0.21 0.125
Total 109 2404 9 91 0.0074875207986688855 0.07570715474209651 0.04534
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) 8.359
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