12:21600952 C / T

dbSNP
rs11046061
Allele Frequency
0.09692
Allele Count
233 / 2404
UCSC
12-21600952-C-T
ClinVar
Click to search for variant in Clinvar
Ensembl
Click to search for variant in Ensembl
gnomAD Browser
Click to search for variant in gnomAD Browser
Site Quality
39055.4
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 16 204 2 12 0.0196 0.1176 0.07843
Azeri 16 200 1 14 0.01 0.14 0.08
Baloch 26 202 5 16 0.0495 0.1584 0.1287
Gilaki 6 198 1 4 0.0101 0.0404 0.0303
Kurd 11 200 2 7 0.02 0.07 0.055
Lur 25 200 7 11 0.07 0.11 0.125
Mazani 19 200 0 19 0.0 0.19 0.095
Persian 8 200 1 6 0.01 0.06 0.04
Persian Gulf Islander 20 200 2 16 0.02 0.16 0.1
Sistani 25 200 5 15 0.05 0.15 0.125
Turkmen 34 200 5 24 0.05 0.24 0.17
Zartoshti 27 200 4 19 0.04 0.19 0.135
Total 233 2404 35 163 0.029118136439267885 0.13560732113144758 0.09692
Annotations

This variant falls on 7 transcripts in 2 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) 12.45
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