12:21627745 A / G

dbSNP
rs2159943
Allele Frequency
0.4235
Allele Count
1018 / 2404
UCSC
12-21627745-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
690105.0
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 77 204 13 51 0.1275 0.5 0.3775
Azeri 80 200 18 44 0.18 0.44 0.4
Baloch 106 202 30 46 0.297 0.4554 0.5248
Gilaki 87 198 20 47 0.202 0.4747 0.4394
Kurd 68 200 11 46 0.11 0.46 0.34
Lur 79 200 15 49 0.15 0.49 0.395
Mazani 95 200 24 47 0.24 0.47 0.475
Persian 67 200 5 57 0.05 0.57 0.335
Persian Gulf Islander 85 200 14 57 0.14 0.57 0.425
Sistani 111 200 36 39 0.36 0.39 0.555
Turkmen 89 200 20 49 0.2 0.49 0.445
Zartoshti 74 200 15 44 0.15 0.44 0.37
Total 1018 2404 221 576 0.18386023294509152 0.47920133111480867 0.4235
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) 5.196
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