12:21600737 G / A

dbSNP
rs11046056
Allele Frequency
0.1522
Allele Count
366 / 2404
UCSC
12-21600737-G-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
15760.8
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 22 204 10 2 0.098 0.0196 0.1078
Azeri 21 200 10 1 0.1 0.01 0.105
Baloch 45 202 18 9 0.1782 0.0891 0.2228
Gilaki 40 198 17 6 0.1717 0.0606 0.202
Kurd 21 200 10 1 0.1 0.01 0.105
Lur 20 200 10 0 0.1 0.0 0.1
Mazani 40 200 18 4 0.18 0.04 0.2
Persian 7 200 3 1 0.03 0.01 0.035
Persian Gulf Islander 49 200 22 5 0.22 0.05 0.245
Sistani 26 200 11 4 0.11 0.04 0.13
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 73 200 32 9 0.32 0.09 0.365
Total 366 2404 162 42 0.13477537437603992 0.03494176372712146 0.1522
Annotations

This variant falls on 7 transcripts in 2 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) 5.532
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