1:2435349 A / C

dbSNP
rs781372970
Allele Frequency
0.02787
Allele Count
67 / 2404
UCSC
1-2435349-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
1430.46
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 11 204 0 11 0.0 0.1078 0.05392
Azeri 10 200 0 10 0.0 0.1 0.05
Baloch 0 202 0 0 0.0 0.0 0
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 10 200 0 10 0.0 0.1 0.05
Lur 7 200 0 7 0.0 0.07 0.035
Mazani 0 200 0 0 0.0 0.0 0
Persian 8 200 0 8 0.0 0.08 0.04
Persian Gulf Islander 11 200 0 11 0.0 0.11 0.055
Sistani 0 200 0 0 0.0 0.0 0
Turkmen 10 200 0 10 0.0 0.1 0.05
Zartoshti 0 200 0 0 0.0 0.0 0
Total 67 2404 0 67 0.0 0.05574043261231281 0.02787
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) ?
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) 4.574
Ada Score 7.97112e-05
RF Score 0.008
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