1:2432331 C / A

dbSNP
rs4648641
Allele Frequency
0.008735
Allele Count
21 / 2404
UCSC
1-2432331-C-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
1290.59
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 1 204 0 1 0.0 0.0098 0.004902
Azeri 0 200 0 0 0.0 0.0 0
Baloch 6 202 3 0 0.0297 0.0 0.0297
Gilaki 1 198 0 1 0.0 0.0101 0.005051
Kurd 0 200 0 0 0.0 0.0 0
Lur 0 200 0 0 0.0 0.0 0
Mazani 2 200 1 0 0.01 0.0 0.01
Persian 0 200 0 0 0.0 0.0 0
Persian Gulf Islander 1 200 0 1 0.0 0.01 0.005
Sistani 2 200 1 0 0.01 0.0 0.01
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 8 200 4 0 0.04 0.0 0.04
Total 21 2404 9 3 0.0074875207986688855 0.0024958402662229617 0.008735
Annotations

This variant falls on 9 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) 2.54
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