12:21640469 G / T

dbSNP
Not found in dbSNP
Allele Frequency
0.001664
Allele Count
4 / 2404
UCSC
12-21640469-G-T
ClinVar
Click to search for variant in Clinvar
gnomAD Browser
Click to search for variant in gnomAD Browser
Site Quality
35.28
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 0 204 0 0 0.0 0.0 0
Azeri 0 200 0 0 0.0 0.0 0
Baloch 0 202 0 0 0.0 0.0 0
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 0 200 0 0 0.0 0.0 0
Lur 0 200 0 0 0.0 0.0 0
Mazani 0 200 0 0 0.0 0.0 0
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 2 200 1 0 0.01 0.0 0.01
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 2 200 1 0 0.01 0.0 0.01
Total 4 2404 2 0 0.0016638935108153079 0.0 0.001664
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