1:2427712 C / T

dbSNP
rs3762444
Allele Frequency
0.1809
Allele Count
435 / 2404
UCSC
1-2427712-C-T
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
18623.7
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 34 204 15 4 0.1471 0.0392 0.1667
Azeri 21 200 9 3 0.09 0.03 0.105
Baloch 31 202 11 9 0.1089 0.0891 0.1535
Gilaki 41 198 17 7 0.1717 0.0707 0.2071
Kurd 19 200 9 1 0.09 0.01 0.095
Lur 29 200 13 3 0.13 0.03 0.145
Mazani 47 200 17 13 0.17 0.13 0.235
Persian 27 200 13 1 0.13 0.01 0.135
Persian Gulf Islander 28 200 9 10 0.09 0.1 0.14
Sistani 45 200 17 11 0.17 0.11 0.225
Turkmen 24 200 11 2 0.11 0.02 0.12
Zartoshti 89 200 35 19 0.35 0.19 0.445
Total 435 2404 176 83 0.1464226289517471 0.06905158069883527 0.1809
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) 2.331
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