12:21594835 G / T

dbSNP
rs10770810
Allele Frequency
0.04326
Allele Count
104 / 2404
UCSC
12-21594835-G-T
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
2522.81
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 7 204 3 1 0.0294 0.0098 0.03431
Azeri 4 200 2 0 0.02 0.0 0.02
Baloch 8 202 4 0 0.0396 0.0 0.0396
Gilaki 6 198 3 0 0.0303 0.0 0.0303
Kurd 6 200 3 0 0.03 0.0 0.03
Lur 6 200 3 0 0.03 0.0 0.03
Mazani 17 200 8 1 0.08 0.01 0.085
Persian 5 200 2 1 0.02 0.01 0.025
Persian Gulf Islander 14 200 7 0 0.07 0.0 0.07
Sistani 14 200 7 0 0.07 0.0 0.07
Turkmen 7 200 3 1 0.03 0.01 0.035
Zartoshti 10 200 4 2 0.04 0.02 0.05
Total 104 2404 49 6 0.04076539101497504 0.004991680532445923 0.04326
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) 11.77
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