12:21614256 G / A

dbSNP
rs7297084
Allele Frequency
0.1668
Allele Count
401 / 2404
UCSC
12-21614256-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
32796.5
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 30 204 8 14 0.0784 0.1373 0.1471
Azeri 44 200 18 8 0.18 0.08 0.22
Baloch 51 202 17 17 0.1683 0.1683 0.2525
Gilaki 13 198 5 3 0.0505 0.0303 0.06566
Kurd 44 200 13 18 0.13 0.18 0.22
Lur 22 200 10 2 0.1 0.02 0.11
Mazani 46 200 20 6 0.2 0.06 0.23
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 66 200 21 24 0.21 0.24 0.33
Sistani 30 200 13 4 0.13 0.04 0.15
Turkmen 6 200 1 4 0.01 0.04 0.03
Zartoshti 45 200 19 7 0.19 0.07 0.225
Total 401 2404 147 107 0.12229617304492513 0.08901830282861897 0.1668
Annotations

This variant falls on 7 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) 0.963
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