12:21616305 C / T

dbSNP
rs10770815
Allele Frequency
0.08694
Allele Count
209 / 2404
UCSC
12-21616305-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
6051.09
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 18 204 9 0 0.0882 0.0 0.08824
Azeri 17 200 7 3 0.07 0.03 0.085
Baloch 17 202 8 1 0.0792 0.0099 0.08416
Gilaki 21 198 10 1 0.101 0.0101 0.1061
Kurd 18 200 9 0 0.09 0.0 0.09
Lur 6 200 3 0 0.03 0.0 0.03
Mazani 31 200 14 3 0.14 0.03 0.155
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 20 200 9 2 0.09 0.02 0.1
Sistani 17 200 8 1 0.08 0.01 0.085
Turkmen 6 200 3 0 0.03 0.0 0.03
Zartoshti 30 200 13 4 0.13 0.04 0.15
Total 209 2404 97 15 0.08069883527454243 0.012479201331114808 0.08694
Annotations

This variant falls on 5 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) 10.94
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