12:21634891 A / T

dbSNP
rs11046078
Allele Frequency
0.05699
Allele Count
137 / 2404
UCSC
12-21634891-A-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
3925.65
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 12 204 6 0 0.0588 0.0 0.05882
Azeri 8 200 4 0 0.04 0.0 0.04
Baloch 9 202 4 1 0.0396 0.0099 0.04455
Gilaki 10 198 5 0 0.0505 0.0 0.05051
Kurd 6 200 3 0 0.03 0.0 0.03
Lur 0 200 0 0 0.0 0.0 0
Mazani 26 200 12 2 0.12 0.02 0.13
Persian 7 200 3 1 0.03 0.01 0.035
Persian Gulf Islander 19 200 9 1 0.09 0.01 0.095
Sistani 25 200 12 1 0.12 0.01 0.125
Turkmen 7 200 3 1 0.03 0.01 0.035
Zartoshti 8 200 4 0 0.04 0.0 0.04
Total 137 2404 65 7 0.054076539101497505 0.005823627287853577 0.05699
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) 2.817
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