12:21624695 A / _

dbSNP
rs6413513
Allele Frequency
0.0624
Allele Count
150 / 2404
UCSC
12-21624695-A-_
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
8921.1
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 13 204 5 3 0.049 0.0294 0.06373
Azeri 14 200 2 10 0.02 0.1 0.07
Baloch 24 202 7 10 0.0693 0.099 0.1188
Gilaki 9 198 2 5 0.0202 0.0505 0.04545
Kurd 9 200 2 5 0.02 0.05 0.045
Lur 5 200 1 3 0.01 0.03 0.025
Mazani 16 200 4 8 0.04 0.08 0.08
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 8 200 0 8 0.0 0.08 0.04
Sistani 25 200 7 11 0.07 0.11 0.125
Turkmen 4 200 1 2 0.01 0.02 0.02
Zartoshti 21 200 7 7 0.07 0.07 0.105
Total 150 2404 39 72 0.0324459234608985 0.059900166389351084 0.0624
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) 10.84
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