12:21653716 C / A

dbSNP
rs2300212
Allele Frequency
0.05616
Allele Count
135 / 2404
UCSC
12-21653716-C-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
3479.69
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 13 204 6 1 0.0588 0.0098 0.06373
Azeri 6 200 3 0 0.03 0.0 0.03
Baloch 12 202 6 0 0.0594 0.0 0.05941
Gilaki 14 198 7 0 0.0707 0.0 0.07071
Kurd 8 200 4 0 0.04 0.0 0.04
Lur 12 200 6 0 0.06 0.0 0.06
Mazani 8 200 4 0 0.04 0.0 0.04
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 6 200 3 0 0.03 0.0 0.03
Sistani 22 200 11 0 0.11 0.0 0.11
Turkmen 14 200 6 2 0.06 0.02 0.07
Zartoshti 14 200 7 0 0.07 0.0 0.07
Total 135 2404 66 3 0.05490848585690516 0.0024958402662229617 0.05616
Annotations

This variant falls on 8 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) 5.176
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