12:21639592 T / C

dbSNP
rs1369328186
Allele Frequency
0.007491
Allele Count
18 / 2403
UCSC
12-21639592-T-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
11008.2
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 0 204 0 0 0.0 0.0 0
Azeri 0 200 0 0 0.0 0.0 0
Baloch 2 202 1 0 0.0099 0.0 0.009901
Gilaki 2 198 0 2 0.0 0.0202 0.0101
Kurd 0 200 0 0 0.0 0.0 0
Lur 0 200 0 0 0.0 0.0 0
Mazani 4 200 2 0 0.02 0.0 0.02
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 7 199 3 1 0.0302 0.0101 0.03518
Sistani 3 200 1 1 0.01 0.01 0.015
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 0 200 0 0 0.0 0.0 0
Total 18 2403 7 4 0.005826050769870994 0.0033291718684977114 0.007491
Annotations

This variant falls on 4 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) 0.226
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