12:21600916 _ / A

dbSNP
rs34838731
Allele Frequency
0.1664
Allele Count
400 / 2404
UCSC
12-21600916-_-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
23710.8
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 29 204 11 7 0.1078 0.0686 0.1422
Azeri 28 200 12 4 0.12 0.04 0.14
Baloch 41 202 7 27 0.0693 0.2673 0.203
Gilaki 5 198 2 1 0.0202 0.0101 0.02525
Kurd 25 200 9 7 0.09 0.07 0.125
Lur 20 200 8 4 0.08 0.04 0.1
Mazani 48 200 9 30 0.09 0.3 0.24
Persian 34 200 12 10 0.12 0.1 0.17
Persian Gulf Islander 52 200 16 20 0.16 0.2 0.26
Sistani 36 200 7 22 0.07 0.22 0.18
Turkmen 25 200 5 15 0.05 0.15 0.125
Zartoshti 57 200 13 31 0.13 0.31 0.285
Total 400 2404 111 178 0.09234608985024959 0.1480865224625624 0.1664
Annotations

This variant falls on 7 transcripts in 2 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) 5.196
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