12:21627557 A / C

dbSNP
rs997820
Allele Frequency
0.09817
Allele Count
236 / 2404
UCSC
12-21627557-A-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
12236.9
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 20 204 7 6 0.0686 0.0588 0.09804
Azeri 15 200 6 3 0.06 0.03 0.075
Baloch 35 202 16 3 0.1584 0.0297 0.1733
Gilaki 21 198 8 5 0.0808 0.0505 0.1061
Kurd 10 200 3 4 0.03 0.04 0.05
Lur 5 200 2 1 0.02 0.01 0.025
Mazani 30 200 14 2 0.14 0.02 0.15
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 32 200 10 12 0.1 0.12 0.16
Sistani 44 200 21 2 0.21 0.02 0.22
Turkmen 10 200 5 0 0.05 0.0 0.05
Zartoshti 14 200 5 4 0.05 0.04 0.07
Total 236 2404 97 42 0.08069883527454243 0.03494176372712146 0.09817
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) 5.341
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