12:21598264 C / T

dbSNP
rs1963817
Allele Frequency
0.292
Allele Count
702 / 2404
UCSC
12-21598264-C-T
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
108081.0
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 58 204 14 30 0.1373 0.2941 0.2843
Azeri 46 200 9 28 0.09 0.28 0.23
Baloch 88 202 20 48 0.198 0.4752 0.4356
Gilaki 75 198 20 35 0.202 0.3535 0.3788
Kurd 48 200 8 32 0.08 0.32 0.24
Lur 47 200 11 25 0.11 0.25 0.235
Mazani 74 200 17 40 0.17 0.4 0.37
Persian 33 200 8 17 0.08 0.17 0.165
Persian Gulf Islander 71 200 17 37 0.17 0.37 0.355
Sistani 100 200 34 32 0.34 0.32 0.5
Turkmen 23 200 7 9 0.07 0.09 0.115
Zartoshti 39 200 6 27 0.06 0.27 0.195
Total 702 2404 171 360 0.14226289517470883 0.2995008319467554 0.292
Annotations

This variant falls on 6 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) 8.884
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