12:21641984 C / A

dbSNP
rs67943377
Allele Frequency
0.03661
Allele Count
88 / 2404
UCSC
12-21641984-C-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
2385.14
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 7 204 3 1 0.0294 0.0098 0.03431
Azeri 18 200 9 0 0.09 0.0 0.09
Baloch 13 202 6 1 0.0594 0.0099 0.06436
Gilaki 4 198 2 0 0.0202 0.0 0.0202
Kurd 7 200 3 1 0.03 0.01 0.035
Lur 7 200 3 1 0.03 0.01 0.035
Mazani 4 200 2 0 0.02 0.0 0.02
Persian 4 200 1 2 0.01 0.02 0.02
Persian Gulf Islander 14 200 6 2 0.06 0.02 0.07
Sistani 3 200 1 1 0.01 0.01 0.015
Turkmen 1 200 0 1 0.0 0.01 0.005
Zartoshti 6 200 2 2 0.02 0.02 0.03
Total 88 2404 38 12 0.03161397670549085 0.009983361064891847 0.03661
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) 5.305
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