12:21597690 C / G

dbSNP
rs1024734
Allele Frequency
0.03661
Allele Count
88 / 2404
UCSC
12-21597690-C-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
2366.46
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 0 200 0 0 0.0 0.0 0
Baloch 5 202 2 1 0.0198 0.0099 0.02475
Gilaki 9 198 4 1 0.0404 0.0101 0.04545
Kurd 4 200 2 0 0.02 0.0 0.02
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 9 200 4 1 0.04 0.01 0.045
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 10 200 5 0 0.05 0.0 0.05
Sistani 7 200 3 1 0.03 0.01 0.035
Turkmen 8 200 4 0 0.04 0.0 0.04
Zartoshti 20 200 9 2 0.09 0.02 0.1
Total 88 2404 41 6 0.03410981697171381 0.004991680532445923 0.03661
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) 0.408
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