12:21619631 A / C

dbSNP
rs12831608
Allele Frequency
0.01664
Allele Count
40 / 2404
UCSC
12-21619631-A-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
871.82
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 2 204 1 0 0.0098 0.0 0.009804
Azeri 0 200 0 0 0.0 0.0 0
Baloch 2 202 1 0 0.0099 0.0 0.009901
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 4 200 2 0 0.02 0.0 0.02
Lur 6 200 3 0 0.03 0.0 0.03
Mazani 8 200 4 0 0.04 0.0 0.04
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 6 200 3 0 0.03 0.0 0.03
Sistani 4 200 2 0 0.02 0.0 0.02
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 2 200 1 0 0.01 0.0 0.01
Total 40 2404 20 0 0.016638935108153077 0.0 0.01664
Annotations

This variant falls on 5 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) 9.227
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