12:21648398 C / T

dbSNP
rs11046085
Allele Frequency
0.00624
Allele Count
15 / 2404
UCSC
12-21648398-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
318.1
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 0 202 0 0 0.0 0.0 0
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 0 200 0 0 0.0 0.0 0
Lur 0 200 0 0 0.0 0.0 0
Mazani 6 200 3 0 0.03 0.0 0.03
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 2 200 0 2 0.0 0.02 0.01
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 5 200 2 1 0.02 0.01 0.025
Total 15 2404 6 3 0.004991680532445923 0.0024958402662229617 0.00624
Annotations

This variant falls on 8 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) 1.778
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