12:21623886 AATT / _

dbSNP
rs71582883
Allele Frequency
0.07196
Allele Count
173 / 2404
UCSC
12-21623886-AATT-_
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
30231.6
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 21 204 3 15 0.0294 0.1471 0.1029
Azeri 14 200 3 8 0.03 0.08 0.07
Baloch 10 202 1 8 0.0099 0.0792 0.0495
Gilaki 14 198 2 10 0.0202 0.101 0.07071
Kurd 25 200 2 21 0.02 0.21 0.125
Lur 9 200 1 7 0.01 0.07 0.045
Mazani 17 200 0 17 0.0 0.17 0.085
Persian 24 200 5 14 0.05 0.14 0.12
Persian Gulf Islander 4 200 0 4 0.0 0.04 0.02
Sistani 2 200 0 2 0.0 0.02 0.01
Turkmen 10 200 2 6 0.02 0.06 0.05
Zartoshti 23 200 2 19 0.02 0.19 0.115
Total 173 2404 21 131 0.01747088186356073 0.10898502495840266 0.07196
Annotations

This variant falls on 2 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) 2.952
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