12:21608397 TA / _

dbSNP
rs10595518
Allele Frequency
0.02038
Allele Count
49 / 2404
UCSC
12-21608397-TA-_
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
3632.79
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 6 204 3 0 0.0294 0.0 0.02941
Azeri 9 200 4 1 0.04 0.01 0.045
Baloch 8 202 2 4 0.0198 0.0396 0.0396
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 7 200 3 1 0.03 0.01 0.035
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 13 200 5 3 0.05 0.03 0.065
Sistani 2 200 1 0 0.01 0.0 0.01
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 2 200 1 0 0.01 0.0 0.01
Total 49 2404 20 9 0.016638935108153077 0.0074875207986688855 0.02038
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) 3.278
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