12:21641954 A / G

dbSNP
rs10743416
Allele Frequency
0.08777
Allele Count
211 / 2404
UCSC
12-21641954-A-G
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
5833.06
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 18 204 8 2 0.0784 0.0196 0.08824
Azeri 8 200 4 0 0.04 0.0 0.04
Baloch 16 202 6 4 0.0594 0.0396 0.07921
Gilaki 8 198 4 0 0.0404 0.0 0.0404
Kurd 31 200 15 1 0.15 0.01 0.155
Lur 7 200 3 1 0.03 0.01 0.035
Mazani 17 200 8 1 0.08 0.01 0.085
Persian 32 200 15 2 0.15 0.02 0.16
Persian Gulf Islander 16 200 8 0 0.08 0.0 0.08
Sistani 12 200 4 4 0.04 0.04 0.06
Turkmen 13 200 4 5 0.04 0.05 0.065
Zartoshti 33 200 14 5 0.14 0.05 0.165
Total 211 2404 93 25 0.07737104825291181 0.020798668885191347 0.08777
Annotations

This variant falls on 4 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) 2.631
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