12:21615257 G / A

dbSNP
rs3213211
Allele Frequency
0.2908
Allele Count
699 / 2404
UCSC
12-21615257-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
99143.0
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 48 204 14 20 0.1373 0.1961 0.2353
Azeri 49 200 19 11 0.19 0.11 0.245
Baloch 85 202 20 45 0.198 0.4455 0.4208
Gilaki 68 198 17 34 0.1717 0.3434 0.3434
Kurd 52 200 16 20 0.16 0.2 0.26
Lur 32 200 13 6 0.13 0.06 0.16
Mazani 80 200 27 26 0.27 0.26 0.4
Persian 10 200 4 2 0.04 0.02 0.05
Persian Gulf Islander 80 200 22 36 0.22 0.36 0.4
Sistani 76 200 21 34 0.21 0.34 0.38
Turkmen 9 200 3 3 0.03 0.03 0.045
Zartoshti 110 200 35 40 0.35 0.4 0.55
Total 699 2404 211 277 0.17554076539101499 0.23044925124792012 0.2908
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) 2.716
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