12:21594983 G / A

dbSNP
rs7133131
Allele Frequency
0.03661
Allele Count
88 / 2404
UCSC
12-21594983-G-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
1909.7
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 4 204 2 0 0.0196 0.0 0.01961
Azeri 5 200 2 1 0.02 0.01 0.025
Baloch 4 202 2 0 0.0198 0.0 0.0198
Gilaki 7 198 3 1 0.0303 0.0101 0.03535
Kurd 11 200 5 1 0.05 0.01 0.055
Lur 6 200 3 0 0.03 0.0 0.03
Mazani 15 200 7 1 0.07 0.01 0.075
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 16 200 7 2 0.07 0.02 0.08
Sistani 8 200 4 0 0.04 0.0 0.04
Turkmen 3 200 1 1 0.01 0.01 0.015
Zartoshti 5 200 2 1 0.02 0.01 0.025
Total 88 2404 40 8 0.033277870216306155 0.0066555740432612314 0.03661
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) 2.701
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