12:21619452 A / G

dbSNP
rs12228018
Allele Frequency
0.02246
Allele Count
54 / 2404
UCSC
12-21619452-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
1157.95
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 4 204 2 0 0.0196 0.0 0.01961
Azeri 4 200 2 0 0.02 0.0 0.02
Baloch 2 202 1 0 0.0099 0.0 0.009901
Gilaki 3 198 1 1 0.0101 0.0101 0.01515
Kurd 4 200 2 0 0.02 0.0 0.02
Lur 0 200 0 0 0.0 0.0 0
Mazani 2 200 1 0 0.01 0.0 0.01
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 6 200 3 0 0.03 0.0 0.03
Sistani 12 200 6 0 0.06 0.0 0.06
Turkmen 7 200 3 1 0.03 0.01 0.035
Zartoshti 6 200 3 0 0.03 0.0 0.03
Total 54 2404 26 2 0.021630615640599003 0.0016638935108153079 0.02246
Annotations

This variant falls on 5 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) 9.48
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