12:21593601 A / _

dbSNP
rs35105508
Allele Frequency
0.04576
Allele Count
110 / 2404
UCSC
12-21593601-A-_
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
5877.09
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 10 200 5 0 0.05 0.0 0.05
Baloch 4 202 1 2 0.0099 0.0198 0.0198
Gilaki 8 198 3 2 0.0303 0.0202 0.0404
Kurd 11 200 5 1 0.05 0.01 0.055
Lur 1 200 0 1 0.0 0.01 0.005
Mazani 14 200 7 0 0.07 0.0 0.07
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 34 200 13 8 0.13 0.08 0.17
Sistani 7 200 3 1 0.03 0.01 0.035
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 13 200 6 1 0.06 0.01 0.065
Total 110 2404 47 16 0.039101497504159734 0.013311148086522463 0.04576
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) 4.34
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