12:21604779 A / G

dbSNP
rs71539404
Allele Frequency
0.02953
Allele Count
71 / 2404
UCSC
12-21604779-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
3843.97
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 6 204 2 2 0.0196 0.0196 0.02941
Azeri 8 200 2 4 0.02 0.04 0.04
Baloch 18 202 5 8 0.0495 0.0792 0.08911
Gilaki 6 198 3 0 0.0303 0.0 0.0303
Kurd 3 200 0 3 0.0 0.03 0.015
Lur 5 200 2 1 0.02 0.01 0.025
Mazani 4 200 0 4 0.0 0.04 0.02
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 10 200 2 6 0.02 0.06 0.05
Sistani 4 200 1 2 0.01 0.02 0.02
Turkmen 1 200 0 1 0.0 0.01 0.005
Zartoshti 6 200 2 2 0.02 0.02 0.03
Total 71 2404 19 33 0.015806988352745424 0.02745424292845258 0.02953
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) 6.639
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