12:21594324 A / G

dbSNP
rs11046051
Allele Frequency
0.03702
Allele Count
89 / 2404
UCSC
12-21594324-A-G
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
4413.68
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 5 204 2 1 0.0196 0.0098 0.02451
Azeri 5 200 2 1 0.02 0.01 0.025
Baloch 11 202 4 3 0.0396 0.0297 0.05446
Gilaki 5 198 2 1 0.0202 0.0101 0.02525
Kurd 1 200 0 1 0.0 0.01 0.005
Lur 7 200 3 1 0.03 0.01 0.035
Mazani 11 200 4 3 0.04 0.03 0.055
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 9 200 4 1 0.04 0.01 0.045
Sistani 12 200 5 2 0.05 0.02 0.06
Turkmen 6 200 3 0 0.03 0.0 0.03
Zartoshti 15 200 4 7 0.04 0.07 0.075
Total 89 2404 34 21 0.028286189683860232 0.01747088186356073 0.03702
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) 0.566
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