12:21615932 _ / T

dbSNP
rs199575795
Allele Frequency
0.01206
Allele Count
29 / 2404
UCSC
12-21615932-_-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
190.32
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 5 204 2 1 0.0196 0.0098 0.02451
Azeri 3 200 1 1 0.01 0.01 0.015
Baloch 0 202 0 0 0.0 0.0 0
Gilaki 5 198 0 5 0.0 0.0505 0.02525
Kurd 2 200 0 2 0.0 0.02 0.01
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 3 200 0 3 0.0 0.03 0.015
Persian 2 200 0 2 0.0 0.02 0.01
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 2 200 0 2 0.0 0.02 0.01
Turkmen 3 200 1 1 0.01 0.01 0.015
Zartoshti 2 200 0 2 0.0 0.02 0.01
Total 29 2404 5 19 0.004159733777038269 0.015806988352745424 0.01206
Annotations

This variant falls on 5 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) 0.12
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