12:21603039 G / A

dbSNP
rs4762828
Allele Frequency
0.1015
Allele Count
244 / 2404
UCSC
12-21603039-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
13524.2
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 8 204 4 0 0.0392 0.0 0.03922
Azeri 18 200 9 0 0.09 0.0 0.09
Baloch 19 202 8 3 0.0792 0.0297 0.09406
Gilaki 18 198 9 0 0.0909 0.0 0.09091
Kurd 13 200 6 1 0.06 0.01 0.065
Lur 6 200 3 0 0.03 0.0 0.03
Mazani 26 200 12 2 0.12 0.02 0.13
Persian 10 200 5 0 0.05 0.0 0.05
Persian Gulf Islander 37 200 16 5 0.16 0.05 0.185
Sistani 19 200 9 1 0.09 0.01 0.095
Turkmen 23 200 11 1 0.11 0.01 0.115
Zartoshti 47 200 22 3 0.22 0.03 0.235
Total 244 2404 114 16 0.09484193011647254 0.013311148086522463 0.1015
Annotations

This variant falls on 6 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) 1.598
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