12:21626287 G / A

dbSNP
rs917851
Allele Frequency
0.1755
Allele Count
422 / 2404
UCSC
12-21626287-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
47535.8
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 38 204 7 24 0.0686 0.2353 0.1863
Azeri 40 200 10 20 0.1 0.2 0.2
Baloch 37 202 6 25 0.0594 0.2475 0.1832
Gilaki 30 198 7 16 0.0707 0.1616 0.1515
Kurd 41 200 5 31 0.05 0.31 0.205
Lur 38 200 9 20 0.09 0.2 0.19
Mazani 36 200 6 24 0.06 0.24 0.18
Persian 42 200 6 30 0.06 0.3 0.21
Persian Gulf Islander 41 200 7 27 0.07 0.27 0.205
Sistani 17 200 1 15 0.01 0.15 0.085
Turkmen 15 200 2 11 0.02 0.11 0.075
Zartoshti 47 200 9 29 0.09 0.29 0.235
Total 422 2404 75 272 0.06239600665557404 0.22628951747088186 0.1755
Annotations

This variant falls on 2 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) 0.457
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