12:21594384 T / C

dbSNP
rs61169452
Allele Frequency
0.09359
Allele Count
225 / 2404
UCSC
12-21594384-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
10621.0
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 14 204 7 0 0.0686 0.0 0.06863
Azeri 17 200 7 3 0.07 0.03 0.085
Baloch 12 202 6 0 0.0594 0.0 0.05941
Gilaki 18 198 9 0 0.0909 0.0 0.09091
Kurd 14 200 7 0 0.07 0.0 0.07
Lur 12 200 5 2 0.05 0.02 0.06
Mazani 29 200 14 1 0.14 0.01 0.145
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 23 200 11 1 0.11 0.01 0.115
Sistani 19 200 9 1 0.09 0.01 0.095
Turkmen 4 200 2 0 0.02 0.0 0.02
Zartoshti 55 200 27 1 0.27 0.01 0.275
Total 225 2404 108 9 0.08985024958402663 0.0074875207986688855 0.09359
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) 0.185
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