12:21639529 A / _

dbSNP
rs10712738
Allele Frequency
0.2862
Allele Count
688 / 2404
UCSC
12-21639529-A-_
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
140031.0
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 58 204 5 48 0.049 0.4706 0.2843
Azeri 63 200 13 37 0.13 0.37 0.315
Baloch 59 202 7 45 0.0693 0.4455 0.2921
Gilaki 26 198 5 16 0.0505 0.1616 0.1313
Kurd 70 200 16 38 0.16 0.38 0.35
Lur 54 200 8 38 0.08 0.38 0.27
Mazani 50 200 8 34 0.08 0.34 0.25
Persian 62 200 10 42 0.1 0.42 0.31
Persian Gulf Islander 64 200 8 48 0.08 0.48 0.32
Sistani 61 200 10 41 0.1 0.41 0.305
Turkmen 57 200 10 37 0.1 0.37 0.285
Zartoshti 64 200 7 50 0.07 0.5 0.32
Total 688 2404 107 474 0.08901830282861897 0.39434276206322794 0.2862
Annotations

This variant falls on 4 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) 0.044
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