12:21613679 A / T

dbSNP
rs7138089
Allele Frequency
0.0807
Allele Count
194 / 2404
UCSC
12-21613679-A-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
5089.42
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 15 204 7 1 0.0686 0.0098 0.07353
Azeri 16 200 8 0 0.08 0.0 0.08
Baloch 17 202 8 1 0.0792 0.0099 0.08416
Gilaki 6 198 2 2 0.0202 0.0202 0.0303
Kurd 15 200 7 1 0.07 0.01 0.075
Lur 12 200 6 0 0.06 0.0 0.06
Mazani 24 200 11 2 0.11 0.02 0.12
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 27 200 13 1 0.13 0.01 0.135
Sistani 26 200 13 0 0.13 0.0 0.13
Turkmen 5 200 2 1 0.02 0.01 0.025
Zartoshti 23 200 10 3 0.1 0.03 0.115
Total 194 2404 91 12 0.07570715474209651 0.009983361064891847 0.0807
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) 1.3
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