12:21616558 G / A

dbSNP
rs7971031
Allele Frequency
0.04077
Allele Count
98 / 2404
UCSC
12-21616558-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
2627.17
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 1 200 0 1 0.0 0.01 0.005
Baloch 13 202 6 1 0.0594 0.0099 0.06436
Gilaki 4 198 2 0 0.0202 0.0 0.0202
Kurd 2 200 1 0 0.01 0.0 0.01
Lur 10 200 5 0 0.05 0.0 0.05
Mazani 13 200 6 1 0.06 0.01 0.065
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 12 200 6 0 0.06 0.0 0.06
Sistani 21 200 9 3 0.09 0.03 0.105
Turkmen 11 200 5 1 0.05 0.01 0.055
Zartoshti 5 200 2 1 0.02 0.01 0.025
Total 98 2404 45 8 0.03743760399334443 0.0066555740432612314 0.04077
Annotations

This variant falls on 5 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) 4.272
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