12:21615918 _ / AG

dbSNP
rs34595378
Allele Frequency
0.4738
Allele Count
1139 / 2404
UCSC
12-21615918-_-AG
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
444187.0
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 90 204 22 46 0.2157 0.451 0.4412
Azeri 107 200 31 45 0.31 0.45 0.535
Baloch 95 202 22 51 0.2178 0.505 0.4703
Gilaki 84 198 20 44 0.202 0.4444 0.4242
Kurd 96 200 22 52 0.22 0.52 0.48
Lur 96 200 29 38 0.29 0.38 0.48
Mazani 94 200 25 44 0.25 0.44 0.47
Persian 87 200 19 49 0.19 0.49 0.435
Persian Gulf Islander 101 200 27 47 0.27 0.47 0.505
Sistani 78 200 19 40 0.19 0.4 0.39
Turkmen 91 200 25 41 0.25 0.41 0.455
Zartoshti 120 200 36 48 0.36 0.48 0.6
Total 1139 2404 297 545 0.24708818635607321 0.45341098169717137 0.4738
Annotations

This variant falls on 5 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) 4.015
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