12:21654469 T / G

dbSNP
rs1061626
Allele Frequency
0.03328
Allele Count
80 / 2404
UCSC
12-21654469-T-G
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
2048.14
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 9 200 4 1 0.04 0.01 0.045
Baloch 4 202 2 0 0.0198 0.0 0.0198
Gilaki 3 198 1 1 0.0101 0.0101 0.01515
Kurd 6 200 3 0 0.03 0.0 0.03
Lur 10 200 5 0 0.05 0.0 0.05
Mazani 8 200 4 0 0.04 0.0 0.04
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 6 200 2 2 0.02 0.02 0.03
Sistani 6 200 3 0 0.03 0.0 0.03
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 19 200 8 3 0.08 0.03 0.095
Total 80 2404 36 8 0.029950083194675542 0.0066555740432612314 0.03328
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) 6.449
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