1:2424122 G / A

dbSNP
rs17373634
Allele Frequency
0.01872
Allele Count
45 / 2404
UCSC
1-2424122-G-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
1267.42
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 2 204 1 0 0.0098 0.0 0.009804
Azeri 6 200 2 2 0.02 0.02 0.03
Baloch 1 202 0 1 0.0 0.0099 0.00495
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 5 200 1 3 0.01 0.03 0.025
Lur 0 200 0 0 0.0 0.0 0
Mazani 6 200 3 0 0.03 0.0 0.03
Persian 1 200 0 1 0.0 0.01 0.005
Persian Gulf Islander 11 200 4 3 0.04 0.03 0.055
Sistani 5 200 1 3 0.01 0.03 0.025
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 6 200 2 2 0.02 0.02 0.03
Total 45 2404 15 15 0.012479201331114808 0.012479201331114808 0.01872
Annotations

This variant falls on 8 transcripts in 2 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) 1.687
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