12:21606510 T / C

dbSNP
rs2192178
Allele Frequency
0.06905
Allele Count
166 / 2404
UCSC
12-21606510-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
5251.28
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 10 204 5 0 0.049 0.0 0.04902
Azeri 8 200 4 0 0.04 0.0 0.04
Baloch 18 202 9 0 0.0891 0.0 0.08911
Gilaki 10 198 5 0 0.0505 0.0 0.05051
Kurd 10 200 5 0 0.05 0.0 0.05
Lur 14 200 7 0 0.07 0.0 0.07
Mazani 20 200 10 0 0.1 0.0 0.1
Persian 10 200 5 0 0.05 0.0 0.05
Persian Gulf Islander 12 200 6 0 0.06 0.0 0.06
Sistani 20 200 10 0 0.1 0.0 0.1
Turkmen 18 200 9 0 0.09 0.0 0.09
Zartoshti 16 200 8 0 0.08 0.0 0.08
Total 166 2404 83 0 0.06905158069883527 0.0 0.06905
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) 0.475
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