12:21603344 A / G

dbSNP
rs4762829
Allele Frequency
0.02496
Allele Count
60 / 2404
UCSC
12-21603344-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
1384.06
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 4 200 2 0 0.02 0.0 0.02
Baloch 6 202 3 0 0.0297 0.0 0.0297
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 2 200 1 0 0.01 0.0 0.01
Lur 4 200 2 0 0.02 0.0 0.02
Mazani 6 200 3 0 0.03 0.0 0.03
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 6 200 3 0 0.03 0.0 0.03
Sistani 6 200 3 0 0.03 0.0 0.03
Turkmen 5 200 2 1 0.02 0.01 0.025
Zartoshti 7 200 3 1 0.03 0.01 0.035
Total 60 2404 29 2 0.024126455906821963 0.0016638935108153079 0.02496
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) 2.937
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