12:21605117 _ / AT

dbSNP
rs71539405
Allele Frequency
0.08611
Allele Count
207 / 2404
UCSC
12-21605117-_-AT
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
53435.8
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 29 204 4 21 0.0392 0.2059 0.1422
Azeri 14 200 2 10 0.02 0.1 0.07
Baloch 10 202 0 10 0.0 0.099 0.0495
Gilaki 20 198 3 14 0.0303 0.1414 0.101
Kurd 29 200 2 25 0.02 0.25 0.145
Lur 21 200 2 17 0.02 0.17 0.105
Mazani 19 200 1 17 0.01 0.17 0.095
Persian 21 200 6 9 0.06 0.09 0.105
Persian Gulf Islander 6 200 0 6 0.0 0.06 0.03
Sistani 8 200 1 6 0.01 0.06 0.04
Turkmen 5 200 2 1 0.02 0.01 0.025
Zartoshti 25 200 4 17 0.04 0.17 0.125
Total 207 2404 27 153 0.022462562396006656 0.12728785357737105 0.08611
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) 11.28
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