12:21639591 GT / _

dbSNP
rs869129453
Allele Frequency
0.01123
Allele Count
27 / 2404
UCSC
12-21639591-GT-_
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
17041.1
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 0 204 0 0 0.0 0.0 0
Azeri 0 200 0 0 0.0 0.0 0
Baloch 10 202 5 0 0.0495 0.0 0.0495
Gilaki 1 198 0 1 0.0 0.0101 0.005051
Kurd 0 200 0 0 0.0 0.0 0
Lur 0 200 0 0 0.0 0.0 0
Mazani 0 200 0 0 0.0 0.0 0
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 9 200 4 1 0.04 0.01 0.045
Sistani 7 200 3 1 0.03 0.01 0.035
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 0 200 0 0 0.0 0.0 0
Total 27 2404 12 3 0.009983361064891847 0.0024958402662229617 0.01123
Annotations

This variant falls on 4 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) 2.527
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