12:21591828 G / A

dbSNP
rs2417980
Allele Frequency
0.04659
Allele Count
112 / 2404
UCSC
12-21591828-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
4612.91
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 8 200 4 0 0.04 0.0 0.04
Baloch 6 202 3 0 0.0297 0.0 0.0297
Gilaki 6 198 3 0 0.0303 0.0 0.0303
Kurd 13 200 6 1 0.06 0.01 0.065
Lur 11 200 5 1 0.05 0.01 0.055
Mazani 11 200 5 1 0.05 0.01 0.055
Persian 3 200 1 1 0.01 0.01 0.015
Persian Gulf Islander 14 200 7 0 0.07 0.0 0.07
Sistani 10 200 5 0 0.05 0.0 0.05
Turkmen 10 200 5 0 0.05 0.0 0.05
Zartoshti 14 200 7 0 0.07 0.0 0.07
Total 112 2404 54 4 0.04492512479201331 0.0033277870216306157 0.04659
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) 2.328
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