12:21628336 G / A

dbSNP
rs10841832
Allele Frequency
0.4122
Allele Count
991 / 2404
UCSC
12-21628336-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
578006.0
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 16 45 0.1569 0.4412 0.3775
Azeri 84 200 23 38 0.23 0.38 0.42
Baloch 83 202 18 47 0.1782 0.4653 0.4109
Gilaki 78 198 16 46 0.1616 0.4646 0.3939
Kurd 89 200 19 51 0.19 0.51 0.445
Lur 82 200 22 38 0.22 0.38 0.41
Mazani 79 200 19 41 0.19 0.41 0.395
Persian 84 200 17 50 0.17 0.5 0.42
Persian Gulf Islander 103 200 22 59 0.22 0.59 0.515
Sistani 77 200 16 45 0.16 0.45 0.385
Turkmen 66 200 18 30 0.18 0.3 0.33
Zartoshti 89 200 19 51 0.19 0.51 0.445
Total 991 2404 225 541 0.18718801996672213 0.45008319467554075 0.4122
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) 1.989
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