12:21602437 A / G

dbSNP
rs147619410
Allele Frequency
0.009151
Allele Count
22 / 2404
UCSC
12-21602437-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
11272.6
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 1 204 0 1 0.0 0.0098 0.004902
Azeri 4 200 0 4 0.0 0.04 0.02
Baloch 0 202 0 0 0.0 0.0 0
Gilaki 2 198 0 2 0.0 0.0202 0.0101
Kurd 0 200 0 0 0.0 0.0 0
Lur 1 200 0 1 0.0 0.01 0.005
Mazani 0 200 0 0 0.0 0.0 0
Persian 4 200 0 4 0.0 0.04 0.02
Persian Gulf Islander 3 200 0 3 0.0 0.03 0.015
Sistani 2 200 1 0 0.01 0.0 0.01
Turkmen 5 200 1 3 0.01 0.03 0.025
Zartoshti 0 200 0 0 0.0 0.0 0
Total 22 2404 2 18 0.0016638935108153079 0.014975041597337771 0.009151
Annotations

This variant falls on 6 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) 2.524
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