12:21635605 G / A

dbSNP
rs7976409
Allele Frequency
0.02829
Allele Count
68 / 2404
UCSC
12-21635605-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
1396.14
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 4 204 2 0 0.0196 0.0 0.01961
Azeri 3 200 1 1 0.01 0.01 0.015
Baloch 8 202 4 0 0.0396 0.0 0.0396
Gilaki 5 198 2 1 0.0202 0.0101 0.02525
Kurd 5 200 2 1 0.02 0.01 0.025
Lur 6 200 3 0 0.03 0.0 0.03
Mazani 13 200 6 1 0.06 0.01 0.065
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 3 200 1 1 0.01 0.01 0.015
Sistani 11 200 5 1 0.05 0.01 0.055
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 4 200 2 0 0.02 0.0 0.02
Total 68 2404 31 6 0.025790349417637273 0.004991680532445923 0.02829
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) 4.609
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