12:21629676 C / A

dbSNP
rs73249910
Allele Frequency
0.03869
Allele Count
93 / 2404
UCSC
12-21629676-C-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
6880.0
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 17 204 4 9 0.0392 0.0882 0.08333
Azeri 6 200 1 4 0.01 0.04 0.03
Baloch 9 202 1 7 0.0099 0.0693 0.04455
Gilaki 7 198 0 7 0.0 0.0707 0.03535
Kurd 11 200 1 9 0.01 0.09 0.055
Lur 10 200 2 6 0.02 0.06 0.05
Mazani 10 200 1 8 0.01 0.08 0.05
Persian 1 200 0 1 0.0 0.01 0.005
Persian Gulf Islander 2 200 0 2 0.0 0.02 0.01
Sistani 4 200 1 2 0.01 0.02 0.02
Turkmen 1 200 0 1 0.0 0.01 0.005
Zartoshti 15 200 2 11 0.02 0.11 0.075
Total 93 2404 13 67 0.010815307820299502 0.05574043261231281 0.03869
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) 5.569
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