12:21609382 G / A

dbSNP
rs2417985
Allele Frequency
0.1622
Allele Count
390 / 2404
UCSC
12-21609382-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
16527.9
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 24 204 12 0 0.1176 0.0 0.1176
Azeri 16 200 8 0 0.08 0.0 0.08
Baloch 42 202 21 0 0.2079 0.0 0.2079
Gilaki 22 198 11 0 0.1111 0.0 0.1111
Kurd 32 200 16 0 0.16 0.0 0.16
Lur 10 200 5 0 0.05 0.0 0.05
Mazani 50 200 25 0 0.25 0.0 0.25
Persian 10 200 5 0 0.05 0.0 0.05
Persian Gulf Islander 56 200 28 0 0.28 0.0 0.28
Sistani 62 200 31 0 0.31 0.0 0.31
Turkmen 24 200 12 0 0.12 0.0 0.12
Zartoshti 42 200 21 0 0.21 0.0 0.21
Total 390 2404 195 0 0.1622296173044925 0.0 0.1622
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) 2.62
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