12:21597604 T / C

dbSNP
rs1024733
Allele Frequency
0.04659
Allele Count
112 / 2404
UCSC
12-21597604-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
4762.18
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 6 200 3 0 0.03 0.0 0.03
Baloch 4 202 2 0 0.0198 0.0 0.0198
Gilaki 8 198 4 0 0.0404 0.0 0.0404
Kurd 6 200 3 0 0.03 0.0 0.03
Lur 6 200 3 0 0.03 0.0 0.03
Mazani 12 200 6 0 0.06 0.0 0.06
Persian 9 200 4 1 0.04 0.01 0.045
Persian Gulf Islander 16 200 8 0 0.08 0.0 0.08
Sistani 11 200 5 1 0.05 0.01 0.055
Turkmen 10 200 5 0 0.05 0.0 0.05
Zartoshti 22 200 11 0 0.11 0.0 0.11
Total 112 2404 55 2 0.045757071547420966 0.0016638935108153079 0.04659
Annotations

This variant falls on 6 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) 0.327
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