12:21607152 A / G

dbSNP
rs10841817
Allele Frequency
0.0391
Allele Count
94 / 2404
UCSC
12-21607152-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
2452.46
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 3 0 0.0294 0.0 0.02941
Azeri 6 200 3 0 0.03 0.0 0.03
Baloch 10 202 5 0 0.0495 0.0 0.0495
Gilaki 14 198 7 0 0.0707 0.0 0.07071
Kurd 4 200 2 0 0.02 0.0 0.02
Lur 8 200 4 0 0.04 0.0 0.04
Mazani 14 200 7 0 0.07 0.0 0.07
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 2 200 1 0 0.01 0.0 0.01
Sistani 16 200 8 0 0.08 0.0 0.08
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 8 200 4 0 0.04 0.0 0.04
Total 94 2404 47 0 0.039101497504159734 0.0 0.0391
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) 5.413
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