12:21591847 G / A

dbSNP
rs2417981
Allele Frequency
0.05075
Allele Count
122 / 2404
UCSC
12-21591847-G-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
4624.77
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 3 0 0.0294 0.0 0.02941
Azeri 10 200 5 0 0.05 0.0 0.05
Baloch 4 202 2 0 0.0198 0.0 0.0198
Gilaki 11 198 5 1 0.0505 0.0101 0.05556
Kurd 11 200 5 1 0.05 0.01 0.055
Lur 11 200 5 1 0.05 0.01 0.055
Mazani 13 200 6 1 0.06 0.01 0.065
Persian 5 200 2 1 0.02 0.01 0.025
Persian Gulf Islander 16 200 8 0 0.08 0.0 0.08
Sistani 10 200 5 0 0.05 0.0 0.05
Turkmen 11 200 5 1 0.05 0.01 0.055
Zartoshti 14 200 7 0 0.07 0.0 0.07
Total 122 2404 58 6 0.048252911813643926 0.004991680532445923 0.05075
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) 7.201
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