1:2433900 C / T

dbSNP
rs12736998
Allele Frequency
0.4638
Allele Count
1115 / 2404
UCSC
1-2433900-C-T
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
737101.0
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 93 204 23 47 0.2255 0.4608 0.4559
Azeri 85 200 13 59 0.13 0.59 0.425
Baloch 88 202 17 54 0.1683 0.5347 0.4356
Gilaki 106 198 29 48 0.2929 0.4848 0.5354
Kurd 86 200 22 42 0.22 0.42 0.43
Lur 93 200 18 57 0.18 0.57 0.465
Mazani 94 200 23 48 0.23 0.48 0.47
Persian 98 200 26 46 0.26 0.46 0.49
Persian Gulf Islander 58 200 10 38 0.1 0.38 0.29
Sistani 97 200 26 45 0.26 0.45 0.485
Turkmen 86 200 25 36 0.25 0.36 0.43
Zartoshti 131 200 41 49 0.41 0.49 0.655
Total 1115 2404 273 569 0.2271214642262895 0.4733777038269551 0.4638
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) Tolerated
Polyphen2 HVAR Pred (C) Benign
MutationTaster Pred (C) Tolerated
MutationAssessor Pred (C) ?
FATHMM Pred (C) Tolerated
FATHMM MKL Coding Pred (C) Tolerated
N of 6 Predicted Damaging 0 of 6 Predicted as Damaging
N of 6 Predicted Tolerated 5 of 6 Predicted as Tolerated
MetaSVM Pred Tolerated
MetaLR Pred Tolerated
GERP++ RS 1.31
CADD Score (Phred Scale) 6.02
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score 0.01

Quality Metrics

Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above