1:2426248 G / C

dbSNP
rs41307848
Allele Frequency
0.02163
Allele Count
52 / 2404
UCSC
1-2426248-G-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
67395.2
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 1 9 0.0098 0.0882 0.05392
Azeri 4 200 0 4 0.0 0.04 0.02
Baloch 6 202 0 6 0.0 0.0594 0.0297
Gilaki 5 198 0 5 0.0 0.0505 0.02525
Kurd 6 200 0 6 0.0 0.06 0.03
Lur 6 200 0 6 0.0 0.06 0.03
Mazani 1 200 0 1 0.0 0.01 0.005
Persian 7 200 0 7 0.0 0.07 0.035
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 1 200 0 1 0.0 0.01 0.005
Turkmen 5 200 0 5 0.0 0.05 0.025
Zartoshti 0 200 0 0 0.0 0.0 0
Total 52 2404 1 50 0.0008319467554076539 0.04159733777038269 0.02163
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) 0.601
Ada Score ?
RF Score ?
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