12:21591815 TA / _

dbSNP
rs3061430
Allele Frequency
0.04409
Allele Count
106 / 2404
UCSC
12-21591815-TA-_
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
4448.62
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 6 204 3 0 0.0294 0.0 0.02941
Azeri 4 200 2 0 0.02 0.0 0.02
Baloch 6 202 3 0 0.0297 0.0 0.0297
Gilaki 4 198 2 0 0.0202 0.0 0.0202
Kurd 13 200 6 1 0.06 0.01 0.065
Lur 12 200 6 0 0.06 0.0 0.06
Mazani 11 200 5 1 0.05 0.01 0.055
Persian 4 200 1 2 0.01 0.02 0.02
Persian Gulf Islander 14 200 7 0 0.07 0.0 0.07
Sistani 10 200 5 0 0.05 0.0 0.05
Turkmen 10 200 5 0 0.05 0.0 0.05
Zartoshti 12 200 6 0 0.06 0.0 0.06
Total 106 2404 51 4 0.042429284525790346 0.0033277870216306157 0.04409
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) 9.087
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