12:21651267 G / A

dbSNP
rs2284394
Allele Frequency
0.07363
Allele Count
177 / 2404
UCSC
12-21651267-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
4915.88
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 13 200 6 1 0.06 0.01 0.065
Baloch 10 202 5 0 0.0495 0.0 0.0495
Gilaki 4 198 2 0 0.0202 0.0 0.0202
Kurd 12 200 6 0 0.06 0.0 0.06
Lur 10 200 5 0 0.05 0.0 0.05
Mazani 32 200 16 0 0.16 0.0 0.16
Persian 16 200 8 0 0.08 0.0 0.08
Persian Gulf Islander 20 200 10 0 0.1 0.0 0.1
Sistani 24 200 12 0 0.12 0.0 0.12
Turkmen 15 200 7 1 0.07 0.01 0.075
Zartoshti 15 200 7 1 0.07 0.01 0.075
Total 177 2404 87 3 0.0723793677204659 0.0024958402662229617 0.07363
Annotations

This variant falls on 8 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) 0.125
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