12:21624733 GCTATT / _

dbSNP
rs58382074
Allele Frequency
0.03328
Allele Count
80 / 2404
UCSC
12-21624733-GCTATT-_
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
4661.21
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 7 204 3 1 0.0294 0.0098 0.03431
Azeri 7 200 3 1 0.03 0.01 0.035
Baloch 14 202 5 4 0.0495 0.0396 0.06931
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 9 200 3 3 0.03 0.03 0.045
Lur 4 200 2 0 0.02 0.0 0.02
Mazani 3 200 1 1 0.01 0.01 0.015
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 17 200 7 3 0.07 0.03 0.085
Sistani 4 200 1 2 0.01 0.02 0.02
Turkmen 4 200 2 0 0.02 0.0 0.02
Zartoshti 11 200 4 3 0.04 0.03 0.055
Total 80 2404 31 18 0.025790349417637273 0.014975041597337771 0.03328
Annotations

This variant falls on 2 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) 10.89
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