12:21626330 C / A

dbSNP
rs917853
Allele Frequency
0.9958
Allele Count
2394 / 2404
UCSC
12-21626330-C-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
745388.0
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 204 204 102 0 1.0 0.0 1
Azeri 200 200 100 0 1.0 0.0 1
Baloch 202 202 101 0 1.0 0.0 1
Gilaki 198 198 99 0 1.0 0.0 1
Kurd 200 200 100 0 1.0 0.0 1
Lur 200 200 100 0 1.0 0.0 1
Mazani 200 200 100 0 1.0 0.0 1
Persian 200 200 100 0 1.0 0.0 1
Persian Gulf Islander 196 200 98 0 0.98 0.0 0.98
Sistani 198 200 99 0 0.99 0.0 0.99
Turkmen 196 200 98 0 0.98 0.0 0.98
Zartoshti 200 200 100 0 1.0 0.0 1
Total 2394 2404 1197 0 0.9958402662229617 0.0 0.9958
Annotations

This variant falls on 2 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) 4.122
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