12:21594107 C / T

dbSNP
rs7131809
Allele Frequency
0.05158
Allele Count
124 / 2404
UCSC
12-21594107-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
3766.77
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 11 204 5 1 0.049 0.0098 0.05392
Azeri 13 200 6 1 0.06 0.01 0.065
Baloch 15 202 7 1 0.0693 0.0099 0.07426
Gilaki 5 198 2 1 0.0202 0.0101 0.02525
Kurd 6 200 3 0 0.03 0.0 0.03
Lur 4 200 2 0 0.02 0.0 0.02
Mazani 17 200 6 5 0.06 0.05 0.085
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 13 200 5 3 0.05 0.03 0.065
Sistani 16 200 7 2 0.07 0.02 0.08
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 18 200 8 2 0.08 0.02 0.09
Total 124 2404 54 16 0.04492512479201331 0.013311148086522463 0.05158
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) 2.331
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