12:21590621 T / C

dbSNP
rs2058464
Allele Frequency
0.4942
Allele Count
1188 / 2404
UCSC
12-21590621-T-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
418347.0
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 96 204 25 46 0.2451 0.451 0.4706
Azeri 110 200 29 52 0.29 0.52 0.55
Baloch 97 202 23 51 0.2277 0.505 0.4802
Gilaki 90 198 20 50 0.202 0.5051 0.4545
Kurd 98 200 22 54 0.22 0.54 0.49
Lur 102 200 30 42 0.3 0.42 0.51
Mazani 97 200 26 45 0.26 0.45 0.485
Persian 101 200 22 57 0.22 0.57 0.505
Persian Gulf Islander 108 200 28 52 0.28 0.52 0.54
Sistani 86 200 22 42 0.22 0.42 0.43
Turkmen 83 200 23 37 0.23 0.37 0.415
Zartoshti 120 200 35 50 0.35 0.5 0.6
Total 1188 2404 305 578 0.25374376039933444 0.480865224625624 0.4942
Annotations

This variant falls on 4 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) 6.405
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