12:21609280 C / A

dbSNP
rs4306326
Allele Frequency
0.07571
Allele Count
182 / 2404
UCSC
12-21609280-C-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
17622.0
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 11 204 3 5 0.0294 0.049 0.05392
Azeri 13 200 2 9 0.02 0.09 0.065
Baloch 23 202 5 13 0.0495 0.1287 0.1139
Gilaki 17 198 5 7 0.0505 0.0707 0.08586
Kurd 15 200 6 3 0.06 0.03 0.075
Lur 3 200 0 3 0.0 0.03 0.015
Mazani 23 200 8 7 0.08 0.07 0.115
Persian 1 200 0 1 0.0 0.01 0.005
Persian Gulf Islander 35 200 8 19 0.08 0.19 0.175
Sistani 18 200 5 8 0.05 0.08 0.09
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 21 200 5 11 0.05 0.11 0.105
Total 182 2404 48 86 0.03993344425956739 0.07154742096505824 0.07571
Annotations

This variant falls on 7 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) 3.648
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