1:2435359 A / C

dbSNP
rs1283380491
Allele Frequency
0.002912
Allele Count
7 / 2404
UCSC
1-2435359-A-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
199.73
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 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 1 200 0 1 0.0 0.01 0.005
Mazani 0 200 0 0 0.0 0.0 0
Persian 1 200 0 1 0.0 0.01 0.005
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 0 200 0 0 0.0 0.0 0
Turkmen 3 200 0 3 0.0 0.03 0.015
Zartoshti 0 200 0 0 0.0 0.0 0
Total 7 2404 0 7 0.0 0.005823627287853577 0.002912
Annotations

This variant falls on 8 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) Damaging
MutationAssessor Pred (C) ?
FATHMM Pred (C) ?
FATHMM MKL Coding Pred (C) Damaging
N of 6 Predicted Damaging 2 of 6 Predicted as Damaging
N of 6 Predicted Tolerated 0 of 6 Predicted as Tolerated
MetaSVM Pred ?
MetaLR Pred ?
GERP++ RS 4.52
CADD Score (Phred Scale) 3.066
Ada Score 0.999979
RF Score 0.946
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