12:21652018 A / G

dbSNP
rs76506684
Allele Frequency
0.00624
Allele Count
15 / 2404
UCSC
12-21652018-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
Click to search for variant in gnomAD Browser
Site Quality
259.09
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 0 204 0 0 0.0 0.0 0
Azeri 2 200 1 0 0.01 0.0 0.01
Baloch 2 202 1 0 0.0099 0.0 0.009901
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 0 200 0 0 0.0 0.0 0
Lur 0 200 0 0 0.0 0.0 0
Mazani 2 200 1 0 0.01 0.0 0.01
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 3 200 1 1 0.01 0.01 0.015
Sistani 2 200 1 0 0.01 0.0 0.01
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 2 200 1 0 0.01 0.0 0.01
Total 15 2404 7 1 0.005823627287853577 0.0008319467554076539 0.00624
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) 1.21
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