12:21607799 C / T

dbSNP
rs2192180
Allele Frequency
0.06988
Allele Count
168 / 2404
UCSC
12-21607799-C-T
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
4634.39
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 6 204 3 0 0.0294 0.0 0.02941
Azeri 10 200 5 0 0.05 0.0 0.05
Baloch 12 202 6 0 0.0594 0.0 0.05941
Gilaki 12 198 6 0 0.0606 0.0 0.06061
Kurd 12 200 6 0 0.06 0.0 0.06
Lur 14 200 7 0 0.07 0.0 0.07
Mazani 28 200 14 0 0.14 0.0 0.14
Persian 14 200 7 0 0.07 0.0 0.07
Persian Gulf Islander 6 200 3 0 0.03 0.0 0.03
Sistani 20 200 10 0 0.1 0.0 0.1
Turkmen 12 200 6 0 0.06 0.0 0.06
Zartoshti 22 200 11 0 0.11 0.0 0.11
Total 168 2404 84 0 0.06988352745424292 0.0 0.06988
Annotations

This variant falls on 7 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) 2.295
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