12:21650856 C / T

dbSNP
rs12829302
Allele Frequency
0.01456
Allele Count
35 / 2404
UCSC
12-21650856-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
595.91
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 2 200 1 0 0.01 0.0 0.01
Baloch 0 202 0 0 0.0 0.0 0
Gilaki 4 198 2 0 0.0202 0.0 0.0202
Kurd 0 200 0 0 0.0 0.0 0
Lur 0 200 0 0 0.0 0.0 0
Mazani 3 200 1 1 0.01 0.01 0.015
Persian 3 200 1 1 0.01 0.01 0.015
Persian Gulf Islander 4 200 2 0 0.02 0.0 0.02
Sistani 6 200 3 0 0.03 0.0 0.03
Turkmen 5 200 2 1 0.02 0.01 0.025
Zartoshti 6 200 3 0 0.03 0.0 0.03
Total 35 2404 16 3 0.013311148086522463 0.0024958402662229617 0.01456
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) 3.759
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