12:21613450 C / T

dbSNP
rs141780788
Allele Frequency
0.005824
Allele Count
14 / 2404
UCSC
12-21613450-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
252.5
Filter Status
PASS
2e+13e+11e+22e+23e+21e+32e+33e+31e+40.00.51.01.52.02.53.03.54.04.55.0
This is the site quality distribution for all variants with 0.005 < AF < 0.01 in Iranome.
 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
Persian 4 200 2 0 0.02 0.0 0.02
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 2 200 1 0 0.01 0.0 0.01
Baloch 2 202 1 0 0.0099 0.0 0.009901
Arab 2 204 1 0 0.0098 0.0 0.009804
Azeri 0 200 0 0 0.0 0.0 0
Kurd 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 0 200 0 0 0.0 0.0 0
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 0 200 0 0 0.0 0.0 0
Total 14 2404 7 0 0.005823627287853577 0.0 0.005824
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) 0.056
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score ?

Quality Metrics

1020304050607080900.00.51.01.52.02.53.03.54.04.55.05.56.0
Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above