12:21622692 C / A

dbSNP
Not found in dbSNP
Allele Frequency
0.0008319
Allele Count
2 / 2404
UCSC
12-21622692-C-A
ClinVar
Click to search for variant in Clinvar
gnomAD Browser
Click to search for variant in gnomAD Browser
Site Quality
42.19
Filter Status
PASS
2e+11e+22e+21e+32e+31e+42e+41e+5012345678910111213
This is the site quality distribution for all doubletons 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
Zartoshti 2 200 1 0 0.01 0.0 0.01
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 0 200 0 0 0.0 0.0 0
Turkmen 0 200 0 0 0.0 0.0 0
Total 2 2404 1 0 0.0008319467554076539 0.0 0.0008319
Annotations

This variant falls on 3 transcripts in 2 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) 6.759
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score ?

Quality Metrics

1020304050607080900.00.10.20.30.40.50.60.70.80.91.0
Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above