12:21602299 T / _

dbSNP
rs3834485
Allele Frequency
0.4701
Allele Count
1130 / 2404
UCSC
12-21602299-T-_
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
261140.0
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 93 204 25 43 0.2451 0.4216 0.4559
Azeri 100 200 28 44 0.28 0.44 0.5
Baloch 97 202 23 51 0.2277 0.505 0.4802
Gilaki 86 198 20 46 0.202 0.4646 0.4343
Kurd 98 200 22 54 0.22 0.54 0.49
Lur 96 200 32 32 0.32 0.32 0.48
Mazani 95 200 25 45 0.25 0.45 0.475
Persian 98 200 23 52 0.23 0.52 0.49
Persian Gulf Islander 104 200 28 48 0.28 0.48 0.52
Sistani 86 200 22 42 0.22 0.42 0.43
Turkmen 61 200 18 25 0.18 0.25 0.305
Zartoshti 116 200 35 46 0.35 0.46 0.58
Total 1130 2404 301 528 0.2504159733777038 0.43926788685524126 0.4701
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) 3.558
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