12:21647758 A / G

dbSNP
rs12833589
Allele Frequency
0.01872
Allele Count
45 / 2404
UCSC
12-21647758-A-G
ClinVar
Click to search for variant in Clinvar
Ensembl
Click to search for variant in Ensembl
gnomAD Browser
Click to search for variant in gnomAD Browser
Site Quality
859.58
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 4 204 2 0 0.0196 0.0 0.01961
Azeri 4 200 2 0 0.02 0.0 0.02
Baloch 4 202 2 0 0.0198 0.0 0.0198
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 2 200 1 0 0.01 0.0 0.01
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 9 200 4 1 0.04 0.01 0.045
Persian 3 200 1 1 0.01 0.01 0.015
Persian Gulf Islander 2 200 1 0 0.01 0.0 0.01
Sistani 6 200 3 0 0.03 0.0 0.03
Turkmen 3 200 1 1 0.01 0.01 0.015
Zartoshti 6 200 3 0 0.03 0.0 0.03
Total 45 2404 21 3 0.01747088186356073 0.0024958402662229617 0.01872
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) 5.839
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