12:21639529 _ / A

dbSNP
rs10712738
Allele Frequency
0.05574
Allele Count
134 / 2404
UCSC
12-21639529-_-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
Click to search for variant in gnomAD Browser
Site Quality
140031.0
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 12 204 0 12 0.0 0.1176 0.05882
Azeri 9 200 1 7 0.01 0.07 0.045
Baloch 7 202 0 7 0.0 0.0693 0.03465
Gilaki 2 198 0 2 0.0 0.0202 0.0101
Kurd 13 200 1 11 0.01 0.11 0.065
Lur 11 200 2 7 0.02 0.07 0.055
Mazani 19 200 1 17 0.01 0.17 0.095
Persian 19 200 2 15 0.02 0.15 0.095
Persian Gulf Islander 2 200 0 2 0.0 0.02 0.01
Sistani 6 200 0 6 0.0 0.06 0.03
Turkmen 11 200 2 7 0.02 0.07 0.055
Zartoshti 23 200 1 21 0.01 0.21 0.115
Total 134 2404 10 114 0.008319467554076539 0.09484193011647254 0.05574
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) 0.209
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