1:2421121 C / T

dbSNP
rs12064950
Allele Frequency
0.01539
Allele Count
37 / 2404
UCSC
1-2421121-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
8079.92
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 1 204 0 1 0.0 0.0098 0.004902
Azeri 1 200 0 1 0.0 0.01 0.005
Baloch 2 202 0 2 0.0 0.0198 0.009901
Gilaki 3 198 0 3 0.0 0.0303 0.01515
Kurd 3 200 0 3 0.0 0.03 0.015
Lur 4 200 0 4 0.0 0.04 0.02
Mazani 3 200 0 3 0.0 0.03 0.015
Persian 6 200 1 4 0.01 0.04 0.03
Persian Gulf Islander 2 200 0 2 0.0 0.02 0.01
Sistani 8 200 0 8 0.0 0.08 0.04
Turkmen 2 200 0 2 0.0 0.02 0.01
Zartoshti 2 200 0 2 0.0 0.02 0.01
Total 37 2404 1 35 0.0008319467554076539 0.029118136439267885 0.01539
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) 3.078
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