12:21640041 _ / AAAC

dbSNP
rs10645224
Allele Frequency
0.06323
Allele Count
152 / 2404
UCSC
12-21640041-_-AAAC
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
7480.3
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 14 204 7 0 0.0686 0.0 0.06863
Azeri 8 200 4 0 0.04 0.0 0.04
Baloch 22 202 11 0 0.1089 0.0 0.1089
Gilaki 14 198 7 0 0.0707 0.0 0.07071
Kurd 8 200 4 0 0.04 0.0 0.04
Lur 8 200 4 0 0.04 0.0 0.04
Mazani 20 200 10 0 0.1 0.0 0.1
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 14 200 7 0 0.07 0.0 0.07
Sistani 24 200 12 0 0.12 0.0 0.12
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 16 200 8 0 0.08 0.0 0.08
Total 152 2404 76 0 0.0632279534109817 0.0 0.06323
Annotations

This variant falls on 4 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) 6.978
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