12:21612337 C / T

dbSNP
rs6487230
Allele Frequency
0.03245
Allele Count
78 / 2404
UCSC
12-21612337-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
1838.31
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 2 200 1 0 0.01 0.0 0.01
Baloch 4 202 2 0 0.0198 0.0 0.0198
Gilaki 4 198 2 0 0.0202 0.0 0.0202
Kurd 4 200 2 0 0.02 0.0 0.02
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 13 200 6 1 0.06 0.01 0.065
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 4 200 2 0 0.02 0.0 0.02
Sistani 15 200 7 1 0.07 0.01 0.075
Turkmen 8 200 4 0 0.04 0.0 0.04
Zartoshti 8 200 4 0 0.04 0.0 0.04
Total 78 2404 38 2 0.03161397670549085 0.0016638935108153079 0.03245
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) 1.194
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