12:21622822 T / C

dbSNP
rs71582885
Allele Frequency
0.002912
Allele Count
7 / 2404
UCSC
12-21622822-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
169.32
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 2 200 1 0 0.01 0.0 0.01
Baloch 0 202 0 0 0.0 0.0 0
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 1 200 0 1 0.0 0.01 0.005
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 2 200 1 0 0.01 0.0 0.01
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 0 200 0 0 0.0 0.0 0
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 0 200 0 0 0.0 0.0 0
Total 7 2404 3 1 0.0024958402662229617 0.0008319467554076539 0.002912
Annotations

This variant falls on 4 transcripts in 2 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) 3.889
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