12:21648007 C / T

dbSNP
rs76658698
Allele Frequency
0.009151
Allele Count
22 / 2404
UCSC
12-21648007-C-T
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
440.1
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 2 200 1 0 0.01 0.0 0.01
Baloch 0 202 0 0 0.0 0.0 0
Gilaki 1 198 0 1 0.0 0.0101 0.005051
Kurd 1 200 0 1 0.0 0.01 0.005
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 8 200 3 2 0.03 0.02 0.04
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 6 200 3 0 0.03 0.0 0.03
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 2 200 1 0 0.01 0.0 0.01
Total 22 2404 9 4 0.0074875207986688855 0.0033277870216306157 0.009151
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) 0.421
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