12:21634067 T / C

dbSNP
rs9634095
Allele Frequency
0.09983
Allele Count
240 / 2404
UCSC
12-21634067-T-C
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
7592.34
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 24 204 12 0 0.1176 0.0 0.1176
Azeri 10 200 5 0 0.05 0.0 0.05
Baloch 22 202 11 0 0.1089 0.0 0.1089
Gilaki 10 198 5 0 0.0505 0.0 0.05051
Kurd 14 200 7 0 0.07 0.0 0.07
Lur 8 200 4 0 0.04 0.0 0.04
Mazani 40 200 20 0 0.2 0.0 0.2
Persian 20 200 10 0 0.1 0.0 0.1
Persian Gulf Islander 28 200 14 0 0.14 0.0 0.14
Sistani 28 200 14 0 0.14 0.0 0.14
Turkmen 6 200 3 0 0.03 0.0 0.03
Zartoshti 30 200 15 0 0.15 0.0 0.15
Total 240 2404 120 0 0.09983361064891846 0.0 0.09983
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) 3.938
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