12:21613114 T / A

dbSNP
rs11046069
Allele Frequency
0.04368
Allele Count
105 / 2404
UCSC
12-21613114-T-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
2344.9
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 3 204 1 1 0.0098 0.0098 0.01471
Azeri 4 200 2 0 0.02 0.0 0.02
Baloch 9 202 4 1 0.0396 0.0099 0.04455
Gilaki 3 198 1 1 0.0101 0.0101 0.01515
Kurd 12 200 6 0 0.06 0.0 0.06
Lur 8 200 4 0 0.04 0.0 0.04
Mazani 11 200 5 1 0.05 0.01 0.055
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 11 200 5 1 0.05 0.01 0.055
Sistani 14 200 7 0 0.07 0.0 0.07
Turkmen 7 200 3 1 0.03 0.01 0.035
Zartoshti 15 200 7 1 0.07 0.01 0.075
Total 105 2404 49 7 0.04076539101497504 0.005823627287853577 0.04368
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) 7.341
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