12:21639591 G / T

dbSNP
rs7964104
Allele Frequency
0.004578
Allele Count
11 / 2403
UCSC
12-21639591-G-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
119084.0
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 1 198 0 1 0.0 0.0101 0.005051
Kurd 0 200 0 0 0.0 0.0 0
Lur 0 200 0 0 0.0 0.0 0
Mazani 2 200 1 0 0.01 0.0 0.01
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 4 199 2 0 0.0201 0.0 0.0201
Sistani 0 200 0 0 0.0 0.0 0
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 2 200 1 0 0.01 0.0 0.01
Total 11 2403 5 1 0.004161464835622139 0.0008322929671244278 0.004578
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) 0.359
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