12:21643481 G / T

dbSNP
rs77099696
Allele Frequency
0.0287
Allele Count
69 / 2404
UCSC
12-21643481-G-T
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
3358.78
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 9 204 2 5 0.0196 0.049 0.04412
Azeri 6 200 2 2 0.02 0.02 0.03
Baloch 4 202 0 4 0.0 0.0396 0.0198
Gilaki 6 198 1 4 0.0101 0.0404 0.0303
Kurd 7 200 2 3 0.02 0.03 0.035
Lur 2 200 0 2 0.0 0.02 0.01
Mazani 10 200 4 2 0.04 0.02 0.05
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 2 200 1 0 0.01 0.0 0.01
Turkmen 1 200 0 1 0.0 0.01 0.005
Zartoshti 18 200 4 10 0.04 0.1 0.09
Total 69 2404 18 33 0.014975041597337771 0.02745424292845258 0.0287
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) 7.103
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