12:21610244 T / C

dbSNP
rs4551820
Allele Frequency
0.07446
Allele Count
179 / 2404
UCSC
12-21610244-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
5128.87
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 8 204 4 0 0.0392 0.0 0.03922
Azeri 14 200 6 2 0.06 0.02 0.07
Baloch 16 202 7 2 0.0693 0.0198 0.07921
Gilaki 8 198 4 0 0.0404 0.0 0.0404
Kurd 12 200 6 0 0.06 0.0 0.06
Lur 4 200 2 0 0.02 0.0 0.02
Mazani 23 200 11 1 0.11 0.01 0.115
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 26 200 12 2 0.12 0.02 0.13
Sistani 12 200 6 0 0.06 0.0 0.06
Turkmen 14 200 6 2 0.06 0.02 0.07
Zartoshti 38 200 19 0 0.19 0.0 0.19
Total 179 2404 85 9 0.07071547420965059 0.0074875207986688855 0.07446
Annotations

This variant falls on 7 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) 0.69
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