12:21623284 C / A

dbSNP
rs557749011
Allele Frequency
0.01123
Allele Count
27 / 2404
UCSC
12-21623284-C-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
47474.3
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 3 204 0 3 0.0 0.0294 0.01471
Azeri 2 200 0 2 0.0 0.02 0.01
Baloch 1 202 0 1 0.0 0.0099 0.00495
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 7 200 0 7 0.0 0.07 0.035
Lur 2 200 0 2 0.0 0.02 0.01
Mazani 0 200 0 0 0.0 0.0 0
Persian 5 200 1 3 0.01 0.03 0.025
Persian Gulf Islander 6 200 0 6 0.0 0.06 0.03
Sistani 0 200 0 0 0.0 0.0 0
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 1 200 0 1 0.0 0.01 0.005
Total 27 2404 1 25 0.0008319467554076539 0.020798668885191347 0.01123
Annotations

This variant falls on 4 transcripts in 2 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) 3.284
Ada Score 2.59802e-05
RF Score 0
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