12:21591073 A / C

dbSNP
rs2058465
Allele Frequency
0.2787
Allele Count
670 / 2404
UCSC
12-21591073-A-C
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
37613.1
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 52 204 26 0 0.2549 0.0 0.2549
Azeri 53 200 26 1 0.26 0.01 0.265
Baloch 99 202 49 1 0.4851 0.0099 0.4901
Gilaki 48 198 23 2 0.2323 0.0202 0.2424
Kurd 56 200 28 0 0.28 0.0 0.28
Lur 20 200 10 0 0.1 0.0 0.1
Mazani 90 200 45 0 0.45 0.0 0.45
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 70 200 35 0 0.35 0.0 0.35
Sistani 74 200 37 0 0.37 0.0 0.37
Turkmen 10 200 5 0 0.05 0.0 0.05
Zartoshti 96 200 48 0 0.48 0.0 0.48
Total 670 2404 333 4 0.27703826955074873 0.0033277870216306157 0.2787
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) 0.17
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