12:21605507 C / T

dbSNP
rs4762830
Allele Frequency
0.03702
Allele Count
89 / 2404
UCSC
12-21605507-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
2411.69
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 10 204 5 0 0.049 0.0 0.04902
Azeri 4 200 2 0 0.02 0.0 0.02
Baloch 6 202 3 0 0.0297 0.0 0.0297
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 6 200 3 0 0.03 0.0 0.03
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 6 200 3 0 0.03 0.0 0.03
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 16 200 8 0 0.08 0.0 0.08
Sistani 14 200 7 0 0.07 0.0 0.07
Turkmen 10 200 5 0 0.05 0.0 0.05
Zartoshti 5 200 2 1 0.02 0.01 0.025
Total 89 2404 44 1 0.036605657237936774 0.0008319467554076539 0.03702
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) 5.641
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