1:2409383 G / A

dbSNP
rs12742193
Allele Frequency
0.01872
Allele Count
45 / 2404
UCSC
1-2409383-G-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
1851.14
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 1 1 0.0098 0.0098 0.01471
Azeri 0 200 0 0 0.0 0.0 0
Baloch 3 202 1 1 0.0099 0.0099 0.01485
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 4 200 2 0 0.02 0.0 0.02
Lur 2 200 0 2 0.0 0.02 0.01
Mazani 5 200 2 1 0.02 0.01 0.025
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 8 200 4 0 0.04 0.0 0.04
Sistani 7 200 2 3 0.02 0.03 0.035
Turkmen 7 200 3 1 0.03 0.01 0.035
Zartoshti 6 200 3 0 0.03 0.0 0.03
Total 45 2404 18 9 0.014975041597337771 0.0074875207986688855 0.01872
Annotations

This variant falls on 6 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) 2.804
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