12:21629732 T / C

dbSNP
rs3759232
Allele Frequency
0.003328
Allele Count
8 / 2404
UCSC
12-21629732-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
1583.14
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 0 200 0 0 0.0 0.0 0
Baloch 1 202 0 1 0.0 0.0099 0.00495
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 0 200 0 0 0.0 0.0 0
Lur 1 200 0 1 0.0 0.01 0.005
Mazani 1 200 0 1 0.0 0.01 0.005
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 2 200 0 2 0.0 0.02 0.01
Sistani 0 200 0 0 0.0 0.0 0
Turkmen 2 200 0 2 0.0 0.02 0.01
Zartoshti 0 200 0 0 0.0 0.0 0
Total 8 2404 0 8 0.0 0.0066555740432612314 0.003328
Annotations

This variant falls on 2 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) 1.789
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