12:21623298 A / T

dbSNP
rs577735412
Allele Frequency
0.03245
Allele Count
78 / 2404
UCSC
12-21623298-A-T
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
1796.71
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 8 204 0 8 0.0 0.0784 0.03922
Azeri 1 200 0 1 0.0 0.01 0.005
Baloch 8 202 1 6 0.0099 0.0594 0.0396
Gilaki 1 198 0 1 0.0 0.0101 0.005051
Kurd 2 200 1 0 0.01 0.0 0.01
Lur 1 200 0 1 0.0 0.01 0.005
Mazani 9 200 1 7 0.01 0.07 0.045
Persian 2 200 0 2 0.0 0.02 0.01
Persian Gulf Islander 8 200 2 4 0.02 0.04 0.04
Sistani 18 200 0 18 0.0 0.18 0.09
Turkmen 9 200 4 1 0.04 0.01 0.045
Zartoshti 11 200 1 9 0.01 0.09 0.055
Total 78 2404 10 58 0.008319467554076539 0.048252911813643926 0.03245
Annotations

This variant falls on 3 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) 0.465
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