12:21594854 A / T

dbSNP
rs12423381
Allele Frequency
0.05116
Allele Count
123 / 2404
UCSC
12-21594854-A-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
2764.44
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 16 200 8 0 0.08 0.0 0.08
Baloch 7 202 3 1 0.0297 0.0099 0.03465
Gilaki 12 198 6 0 0.0606 0.0 0.06061
Kurd 6 200 3 0 0.03 0.0 0.03
Lur 8 200 4 0 0.04 0.0 0.04
Mazani 10 200 5 0 0.05 0.0 0.05
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 9 200 4 1 0.04 0.01 0.045
Sistani 16 200 8 0 0.08 0.0 0.08
Turkmen 13 200 6 1 0.06 0.01 0.065
Zartoshti 14 200 6 2 0.06 0.02 0.07
Total 123 2404 59 5 0.04908485856905158 0.004159733777038269 0.05116
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) 0.511
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