1:2435357 A / C

dbSNP
rs1245532346
Allele Frequency
0.01373
Allele Count
33 / 2404
UCSC
1-2435357-A-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
Click to search for variant in gnomAD Browser
Site Quality
776.46
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 3 204 0 3 0.0 0.0294 0.01471
Azeri 8 200 0 8 0.0 0.08 0.04
Baloch 0 202 0 0 0.0 0.0 0
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 5 200 0 5 0.0 0.05 0.025
Lur 2 200 0 2 0.0 0.02 0.01
Mazani 0 200 0 0 0.0 0.0 0
Persian 6 200 0 6 0.0 0.06 0.03
Persian Gulf Islander 3 200 0 3 0.0 0.03 0.015
Sistani 0 200 0 0 0.0 0.0 0
Turkmen 6 200 0 6 0.0 0.06 0.03
Zartoshti 0 200 0 0 0.0 0.0 0
Total 33 2404 0 33 0.0 0.02745424292845258 0.01373
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) 1.292
Ada Score 1.35659e-05
RF Score 0.012
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