1:2424765 G / A

dbSNP
rs12409875
Allele Frequency
0.09983
Allele Count
240 / 2404
UCSC
1-2424765-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
8064.7
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 15 204 7 1 0.0686 0.0098 0.07353
Azeri 8 200 3 2 0.03 0.02 0.04
Baloch 26 202 12 2 0.1188 0.0198 0.1287
Gilaki 15 198 6 3 0.0606 0.0303 0.07576
Kurd 16 200 6 4 0.06 0.04 0.08
Lur 14 200 5 4 0.05 0.04 0.07
Mazani 29 200 12 5 0.12 0.05 0.145
Persian 18 200 8 2 0.08 0.02 0.09
Persian Gulf Islander 9 200 3 3 0.03 0.03 0.045
Sistani 26 200 11 4 0.11 0.04 0.13
Turkmen 10 200 5 0 0.05 0.0 0.05
Zartoshti 54 200 24 6 0.24 0.06 0.27
Total 240 2404 102 36 0.08485856905158069 0.029950083194675542 0.09983
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) 3.308
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