12:21649637 C / T

dbSNP
rs7297524
Allele Frequency
0.08985
Allele Count
216 / 2404
UCSC
12-21649637-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
6321.4
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 16 204 8 0 0.0784 0.0 0.07843
Azeri 16 200 8 0 0.08 0.0 0.08
Baloch 8 202 4 0 0.0396 0.0 0.0396
Gilaki 12 198 6 0 0.0606 0.0 0.06061
Kurd 8 200 4 0 0.04 0.0 0.04
Lur 12 200 6 0 0.06 0.0 0.06
Mazani 30 200 15 0 0.15 0.0 0.15
Persian 14 200 7 0 0.07 0.0 0.07
Persian Gulf Islander 14 200 7 0 0.07 0.0 0.07
Sistani 42 200 21 0 0.21 0.0 0.21
Turkmen 14 200 7 0 0.07 0.0 0.07
Zartoshti 30 200 15 0 0.15 0.0 0.15
Total 216 2404 108 0 0.08985024958402663 0.0 0.08985
Annotations

This variant falls on 8 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) 7.87
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