12:21639194 T / C

dbSNP
rs66935820
Allele Frequency
0.03328
Allele Count
80 / 2404
UCSC
12-21639194-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
3744.9
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 5 204 2 1 0.0196 0.0098 0.02451
Azeri 11 200 5 1 0.05 0.01 0.055
Baloch 10 202 3 4 0.0297 0.0396 0.0495
Gilaki 3 198 1 1 0.0101 0.0101 0.01515
Kurd 7 200 3 1 0.03 0.01 0.035
Lur 3 200 1 1 0.01 0.01 0.015
Mazani 8 200 3 2 0.03 0.02 0.04
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 12 200 2 8 0.02 0.08 0.06
Sistani 1 200 0 1 0.0 0.01 0.005
Turkmen 4 200 2 0 0.02 0.0 0.02
Zartoshti 10 200 4 2 0.04 0.02 0.05
Total 80 2404 29 22 0.024126455906821963 0.018302828618968387 0.03328
Annotations

This variant falls on 4 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) 1.64
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