12:21622449 C / _

dbSNP
rs150249998
Allele Frequency
0.01123
Allele Count
27 / 2404
UCSC
12-21622449-C-_
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
936.45
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 0 204 0 0 0.0 0.0 0
Azeri 0 200 0 0 0.0 0.0 0
Baloch 0 202 0 0 0.0 0.0 0
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 0 200 0 0 0.0 0.0 0
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 5 200 2 1 0.02 0.01 0.025
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 6 200 3 0 0.03 0.0 0.03
Sistani 8 200 4 0 0.04 0.0 0.04
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 2 200 1 0 0.01 0.0 0.01
Total 27 2404 13 1 0.010815307820299502 0.0008319467554076539 0.01123
Annotations

This variant falls on 3 transcripts in 2 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) 2.019
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