12:21615935 A / T

dbSNP
rs10841819
Allele Frequency
0.3914
Allele Count
941 / 2404
UCSC
12-21615935-A-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
113744.0
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 77 204 20 37 0.1961 0.3627 0.3775
Azeri 90 200 30 30 0.3 0.3 0.45
Baloch 90 202 22 46 0.2178 0.4554 0.4455
Gilaki 72 198 18 36 0.1818 0.3636 0.3636
Kurd 83 200 20 43 0.2 0.43 0.415
Lur 71 200 25 21 0.25 0.21 0.355
Mazani 85 200 23 39 0.23 0.39 0.425
Persian 54 200 18 18 0.18 0.18 0.27
Persian Gulf Islander 92 200 27 38 0.27 0.38 0.46
Sistani 77 200 21 35 0.21 0.35 0.385
Turkmen 37 200 12 13 0.12 0.13 0.185
Zartoshti 113 200 36 41 0.36 0.41 0.565
Total 941 2404 272 397 0.22628951747088186 0.3302828618968386 0.3914
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) 1.899
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