12:21624309 A / T

dbSNP
rs11046076
Allele Frequency
0.3922
Allele Count
859 / 2190
UCSC
12-21624309-A-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
238906.0
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 69 184 15 39 0.163 0.4239 0.375
Azeri 62 180 12 38 0.1333 0.4222 0.3444
Baloch 90 189 20 50 0.2116 0.5291 0.4762
Gilaki 79 186 17 45 0.1828 0.4839 0.4247
Kurd 57 172 7 43 0.0814 0.5 0.3314
Lur 70 182 17 36 0.1868 0.3956 0.3846
Mazani 78 183 16 46 0.1749 0.5027 0.4262
Persian 60 185 8 44 0.0865 0.4757 0.3243
Persian Gulf Islander 78 186 16 46 0.172 0.4946 0.4194
Sistani 103 187 32 39 0.3422 0.4171 0.5508
Turkmen 69 186 14 41 0.1505 0.4409 0.371
Zartoshti 44 170 6 32 0.0706 0.3765 0.2588
Total 859 2190 180 499 0.1643835616438356 0.4557077625570776 0.3922
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) 1.213
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