12:21624309 A / _

dbSNP
rs56736899
Allele Frequency
0.3823
Allele Count
919 / 2404
UCSC
12-21624309-A-_
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
154998.0
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 66 204 13 40 0.1275 0.3922 0.3235
Azeri 87 200 21 45 0.21 0.45 0.435
Baloch 71 202 12 47 0.1188 0.4653 0.3515
Gilaki 76 198 16 44 0.1616 0.4444 0.3838
Kurd 82 200 15 52 0.15 0.52 0.41
Lur 77 200 20 37 0.2 0.37 0.385
Mazani 74 200 16 42 0.16 0.42 0.37
Persian 88 200 21 46 0.21 0.46 0.44
Persian Gulf Islander 92 200 20 52 0.2 0.52 0.46
Sistani 57 200 11 35 0.11 0.35 0.285
Turkmen 67 200 16 35 0.16 0.35 0.335
Zartoshti 82 200 19 44 0.19 0.44 0.41
Total 919 2404 200 519 0.16638935108153077 0.4317803660565724 0.3823
Annotations

This variant falls on 2 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) 3.93
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