12:21599373 A / G

dbSNP
rs7973116
Allele Frequency
0.03078
Allele Count
74 / 2404
UCSC
12-21599373-A-G
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
1564.19
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 7 204 3 1 0.0294 0.0098 0.03431
Azeri 6 200 3 0 0.03 0.0 0.03
Baloch 3 202 1 1 0.0099 0.0099 0.01485
Gilaki 9 198 4 1 0.0404 0.0101 0.04545
Kurd 4 200 2 0 0.02 0.0 0.02
Lur 4 200 2 0 0.02 0.0 0.02
Mazani 15 200 7 1 0.07 0.01 0.075
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 10 200 5 0 0.05 0.0 0.05
Sistani 10 200 5 0 0.05 0.0 0.05
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 6 200 3 0 0.03 0.0 0.03
Total 74 2404 35 4 0.029118136439267885 0.0033277870216306157 0.03078
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) 1.89
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