12:21598195 G / A

dbSNP
rs1963330
Allele Frequency
0.0782
Allele Count
188 / 2404
UCSC
12-21598195-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
12759.7
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 16 204 6 4 0.0588 0.0392 0.07843
Azeri 23 200 11 1 0.11 0.01 0.115
Baloch 21 202 9 3 0.0891 0.0297 0.104
Gilaki 14 198 4 6 0.0404 0.0606 0.07071
Kurd 17 200 7 3 0.07 0.03 0.085
Lur 7 200 3 1 0.03 0.01 0.035
Mazani 16 200 7 2 0.07 0.02 0.08
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 38 200 12 14 0.12 0.14 0.19
Sistani 10 200 5 0 0.05 0.0 0.05
Turkmen 1 200 0 1 0.0 0.01 0.005
Zartoshti 23 200 10 3 0.1 0.03 0.115
Total 188 2404 75 38 0.06239600665557404 0.03161397670549085 0.0782
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) 3.615
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