12:21599258 T / _

dbSNP
rs10707147
Allele Frequency
0.05699
Allele Count
137 / 2404
UCSC
12-21599258-T-_
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
5622.18
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 8 204 4 0 0.0392 0.0 0.03922
Azeri 11 200 5 1 0.05 0.01 0.055
Baloch 12 202 6 0 0.0594 0.0 0.05941
Gilaki 6 198 3 0 0.0303 0.0 0.0303
Kurd 6 200 3 0 0.03 0.0 0.03
Lur 4 200 2 0 0.02 0.0 0.02
Mazani 24 200 10 4 0.1 0.04 0.12
Persian 3 200 1 1 0.01 0.01 0.015
Persian Gulf Islander 13 200 6 1 0.06 0.01 0.065
Sistani 19 200 8 3 0.08 0.03 0.095
Turkmen 4 200 2 0 0.02 0.0 0.02
Zartoshti 27 200 12 3 0.12 0.03 0.135
Total 137 2404 62 13 0.051580698835274545 0.010815307820299502 0.05699
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) 7.547
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