12:21627287 A / G

dbSNP
rs10161132
Allele Frequency
0.03744
Allele Count
90 / 2404
UCSC
12-21627287-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
2249.08
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 6 204 2 2 0.0196 0.0196 0.02941
Azeri 8 200 4 0 0.04 0.0 0.04
Baloch 10 202 5 0 0.0495 0.0 0.0495
Gilaki 5 198 2 1 0.0202 0.0101 0.02525
Kurd 5 200 2 1 0.02 0.01 0.025
Lur 10 200 5 0 0.05 0.0 0.05
Mazani 4 200 2 0 0.02 0.0 0.02
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 20 200 10 0 0.1 0.0 0.1
Turkmen 8 200 3 2 0.03 0.02 0.04
Zartoshti 6 200 3 0 0.03 0.0 0.03
Total 90 2404 42 6 0.03494176372712146 0.004991680532445923 0.03744
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) 1.138
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