12:21653119 A / C

dbSNP
rs2300211
Allele Frequency
0.02953
Allele Count
71 / 2404
UCSC
12-21653119-A-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
1544.36
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 10 204 5 0 0.049 0.0 0.04902
Azeri 2 200 1 0 0.01 0.0 0.01
Baloch 4 202 2 0 0.0198 0.0 0.0198
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 2 200 1 0 0.01 0.0 0.01
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 8 200 4 0 0.04 0.0 0.04
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 14 200 7 0 0.07 0.0 0.07
Sistani 12 200 6 0 0.06 0.0 0.06
Turkmen 8 200 4 0 0.04 0.0 0.04
Zartoshti 7 200 2 3 0.02 0.03 0.035
Total 71 2404 34 3 0.028286189683860232 0.0024958402662229617 0.02953
Annotations

This variant falls on 8 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) 4.498
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