12:21604740 C / T

dbSNP
rs10770812
Allele Frequency
0.1194
Allele Count
287 / 2404
UCSC
12-21604740-C-T
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
15201.3
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 31 204 14 3 0.1373 0.0294 0.152
Azeri 26 200 11 4 0.11 0.04 0.13
Baloch 57 202 22 13 0.2178 0.1287 0.2822
Gilaki 10 198 5 0 0.0505 0.0 0.05051
Kurd 25 200 9 7 0.09 0.07 0.125
Lur 13 200 6 1 0.06 0.01 0.065
Mazani 21 200 10 1 0.1 0.01 0.105
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 49 200 19 11 0.19 0.11 0.245
Sistani 27 200 12 3 0.12 0.03 0.135
Turkmen 3 200 1 1 0.01 0.01 0.015
Zartoshti 21 200 10 1 0.1 0.01 0.105
Total 287 2404 121 45 0.10066555740432612 0.03743760399334443 0.1194
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) 12.45
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