12:21602793 T / _

dbSNP
rs71537701
Allele Frequency
0.03744
Allele Count
90 / 2404
UCSC
12-21602793-T-_
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
388276.0
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 4 204 1 2 0.0098 0.0196 0.01961
Azeri 3 200 0 3 0.0 0.03 0.015
Baloch 12 202 0 12 0.0 0.1188 0.05941
Gilaki 6 198 1 4 0.0101 0.0404 0.0303
Kurd 6 200 1 4 0.01 0.04 0.03
Lur 3 200 0 3 0.0 0.03 0.015
Mazani 25 200 0 25 0.0 0.25 0.125
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 9 200 0 9 0.0 0.09 0.045
Sistani 15 200 0 15 0.0 0.15 0.075
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 7 200 0 7 0.0 0.07 0.035
Total 90 2404 3 84 0.0024958402662229617 0.06988352745424292 0.03744
Annotations

This variant falls on 6 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) 0.914
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