1:2427340 T / C

dbSNP
rs3762442
Allele Frequency
0.09276
Allele Count
223 / 2404
UCSC
1-2427340-T-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
8799.29
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 13 204 6 1 0.0588 0.0098 0.06373
Azeri 16 200 6 4 0.06 0.04 0.08
Baloch 23 202 10 3 0.099 0.0297 0.1139
Gilaki 7 198 2 3 0.0202 0.0303 0.03535
Kurd 15 200 6 3 0.06 0.03 0.075
Lur 15 200 6 3 0.06 0.03 0.075
Mazani 23 200 9 5 0.09 0.05 0.115
Persian 12 200 5 2 0.05 0.02 0.06
Persian Gulf Islander 37 200 15 7 0.15 0.07 0.185
Sistani 29 200 10 9 0.1 0.09 0.145
Turkmen 16 200 5 6 0.05 0.06 0.08
Zartoshti 17 200 3 11 0.03 0.11 0.085
Total 223 2404 83 57 0.06905158069883527 0.04742096505823627 0.09276
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) 2.877
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