12:21599302 T / G

dbSNP
rs7959893
Allele Frequency
0.05366
Allele Count
129 / 2404
UCSC
12-21599302-T-G
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
2968.82
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 5 204 2 1 0.0196 0.0098 0.02451
Azeri 14 200 7 0 0.07 0.0 0.07
Baloch 13 202 6 1 0.0594 0.0099 0.06436
Gilaki 5 198 2 1 0.0202 0.0101 0.02525
Kurd 8 200 4 0 0.04 0.0 0.04
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 29 200 12 5 0.12 0.05 0.145
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 11 200 5 1 0.05 0.01 0.055
Sistani 16 200 8 0 0.08 0.0 0.08
Turkmen 6 200 3 0 0.03 0.0 0.03
Zartoshti 18 200 9 0 0.09 0.0 0.09
Total 129 2404 60 9 0.04991680532445923 0.0074875207986688855 0.05366
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) 4.112
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