12:21635232 G / A

dbSNP
rs3213212
Allele Frequency
0.01331
Allele Count
32 / 2404
UCSC
12-21635232-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
691.07
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 0 204 0 0 0.0 0.0 0
Azeri 0 200 0 0 0.0 0.0 0
Baloch 6 202 3 0 0.0297 0.0 0.0297
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 0 200 0 0 0.0 0.0 0
Lur 0 200 0 0 0.0 0.0 0
Mazani 10 200 5 0 0.05 0.0 0.05
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 2 200 1 0 0.01 0.0 0.01
Sistani 6 200 3 0 0.03 0.0 0.03
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 4 200 2 0 0.02 0.0 0.02
Total 32 2404 16 0 0.013311148086522463 0.0 0.01331
Annotations

This variant falls on 2 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) 2.87
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