12:21624113 C / T

dbSNP
rs74067192
Allele Frequency
0.01123
Allele Count
27 / 2404
UCSC
12-21624113-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
5216.64
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 0 2 0.0 0.02 0.01
Baloch 4 202 0 4 0.0 0.0396 0.0198
Gilaki 3 198 1 1 0.0101 0.0101 0.01515
Kurd 1 200 0 1 0.0 0.01 0.005
Lur 2 200 0 2 0.0 0.02 0.01
Mazani 3 200 0 3 0.0 0.03 0.015
Persian 3 200 0 3 0.0 0.03 0.015
Persian Gulf Islander 4 200 0 4 0.0 0.04 0.02
Sistani 5 200 1 3 0.01 0.03 0.025
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 0 200 0 0 0.0 0.0 0
Total 27 2404 2 23 0.0016638935108153079 0.01913477537437604 0.01123
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) 1.008
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