12:21593766 T / A

dbSNP
rs10770809
Allele Frequency
0.05075
Allele Count
122 / 2404
UCSC
12-21593766-T-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
3710.37
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 12 204 6 0 0.0588 0.0 0.05882
Azeri 0 200 0 0 0.0 0.0 0
Baloch 8 202 4 0 0.0396 0.0 0.0396
Gilaki 10 198 5 0 0.0505 0.0 0.05051
Kurd 8 200 4 0 0.04 0.0 0.04
Lur 8 200 4 0 0.04 0.0 0.04
Mazani 14 200 7 0 0.07 0.0 0.07
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 12 200 6 0 0.06 0.0 0.06
Sistani 22 200 11 0 0.11 0.0 0.11
Turkmen 12 200 6 0 0.06 0.0 0.06
Zartoshti 8 200 4 0 0.04 0.0 0.04
Total 122 2404 61 0 0.050748752079866885 0.0 0.05075
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) 5.169
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