12:21601491 C / T

dbSNP
rs2159947
Allele Frequency
0.01664
Allele Count
40 / 2404
UCSC
12-21601491-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
817.97
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 2 204 1 0 0.0098 0.0 0.009804
Azeri 2 200 1 0 0.01 0.0 0.01
Baloch 2 202 1 0 0.0099 0.0 0.009901
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 2 200 1 0 0.01 0.0 0.01
Lur 4 200 2 0 0.02 0.0 0.02
Mazani 3 200 1 1 0.01 0.01 0.015
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 10 200 5 0 0.05 0.0 0.05
Sistani 7 200 3 1 0.03 0.01 0.035
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 6 200 3 0 0.03 0.0 0.03
Total 40 2404 19 2 0.015806988352745424 0.0016638935108153079 0.01664
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) 4.193
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