12:21610693 A / T

dbSNP
rs61926294
Allele Frequency
0.07238
Allele Count
174 / 2404
UCSC
12-21610693-A-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
5254.71
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 9 204 4 1 0.0392 0.0098 0.04412
Azeri 12 200 6 0 0.06 0.0 0.06
Baloch 13 202 5 3 0.0495 0.0297 0.06436
Gilaki 10 198 5 0 0.0505 0.0 0.05051
Kurd 6 200 3 0 0.03 0.0 0.03
Lur 10 200 5 0 0.05 0.0 0.05
Mazani 32 200 15 2 0.15 0.02 0.16
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 23 200 11 1 0.11 0.01 0.115
Sistani 15 200 7 1 0.07 0.01 0.075
Turkmen 10 200 5 0 0.05 0.0 0.05
Zartoshti 30 200 13 4 0.13 0.04 0.15
Total 174 2404 81 12 0.06738768718801996 0.009983361064891847 0.07238
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) 2.981
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