12:21644429 AA / _

dbSNP
rs140439673
Allele Frequency
0.009567
Allele Count
23 / 2404
UCSC
12-21644429-AA-_
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
19539.0
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 0 204 0 0 0.0 0.0 0
Azeri 2 200 0 2 0.0 0.02 0.01
Baloch 2 202 0 2 0.0 0.0198 0.009901
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 0 200 0 0 0.0 0.0 0
Lur 0 200 0 0 0.0 0.0 0
Mazani 5 200 0 5 0.0 0.05 0.025
Persian 1 200 0 1 0.0 0.01 0.005
Persian Gulf Islander 4 200 0 4 0.0 0.04 0.02
Sistani 3 200 1 1 0.01 0.01 0.015
Turkmen 1 200 0 1 0.0 0.01 0.005
Zartoshti 5 200 0 5 0.0 0.05 0.025
Total 23 2404 1 21 0.0008319467554076539 0.01747088186356073 0.009567
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) 9.388
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