12:21615894 T / G

dbSNP
rs73067231
Allele Frequency
0.03245
Allele Count
78 / 2404
UCSC
12-21615894-T-G
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
22954.6
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 10 204 0 10 0.0 0.098 0.04902
Azeri 3 200 0 3 0.0 0.03 0.015
Baloch 3 202 0 3 0.0 0.0297 0.01485
Gilaki 12 198 2 8 0.0202 0.0808 0.06061
Kurd 10 200 0 10 0.0 0.1 0.05
Lur 7 200 0 7 0.0 0.07 0.035
Mazani 7 200 1 5 0.01 0.05 0.035
Persian 9 200 0 9 0.0 0.09 0.045
Persian Gulf Islander 1 200 0 1 0.0 0.01 0.005
Sistani 5 200 0 5 0.0 0.05 0.025
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 11 200 0 11 0.0 0.11 0.055
Total 78 2404 3 72 0.0024958402662229617 0.059900166389351084 0.03245
Annotations

This variant falls on 5 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) 0.7
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