12:21615318 C / T

dbSNP
rs10770814
Allele Frequency
0.1161
Allele Count
279 / 2404
UCSC
12-21615318-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
15420.9
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 16 204 6 4 0.0588 0.0392 0.07843
Azeri 22 200 11 0 0.11 0.0 0.11
Baloch 33 202 10 13 0.099 0.1287 0.1634
Gilaki 18 198 7 4 0.0707 0.0404 0.09091
Kurd 23 200 9 5 0.09 0.05 0.115
Lur 13 200 6 1 0.06 0.01 0.065
Mazani 31 200 13 5 0.13 0.05 0.155
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 44 200 18 8 0.18 0.08 0.22
Sistani 38 200 15 8 0.15 0.08 0.19
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 37 200 16 5 0.16 0.05 0.185
Total 279 2404 113 53 0.09400998336106489 0.04409317803660566 0.1161
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) 5.352
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