12:21626152 A / T

dbSNP
rs11611002
Allele Frequency
0.03369
Allele Count
81 / 2404
UCSC
12-21626152-A-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
2122.78
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 6 204 3 0 0.0294 0.0 0.02941
Azeri 6 200 3 0 0.03 0.0 0.03
Baloch 10 202 5 0 0.0495 0.0 0.0495
Gilaki 6 198 3 0 0.0303 0.0 0.0303
Kurd 4 200 2 0 0.02 0.0 0.02
Lur 4 200 2 0 0.02 0.0 0.02
Mazani 14 200 7 0 0.07 0.0 0.07
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 6 200 3 0 0.03 0.0 0.03
Sistani 11 200 5 1 0.05 0.01 0.055
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 10 200 5 0 0.05 0.0 0.05
Total 81 2404 40 1 0.033277870216306155 0.0008319467554076539 0.03369
Annotations

This variant falls on 2 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) 0.101
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