12:21614903 A / G

dbSNP
rs3825287
Allele Frequency
0.3673
Allele Count
883 / 2404
UCSC
12-21614903-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
155065.0
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 62 204 19 24 0.1863 0.2353 0.3039
Azeri 76 200 29 18 0.29 0.18 0.38
Baloch 96 202 23 50 0.2277 0.495 0.4752
Gilaki 87 198 20 47 0.202 0.4747 0.4394
Kurd 72 200 20 32 0.2 0.32 0.36
Lur 44 200 18 8 0.18 0.08 0.22
Mazani 97 200 26 45 0.26 0.45 0.485
Persian 35 200 15 5 0.15 0.05 0.175
Persian Gulf Islander 89 200 26 37 0.26 0.37 0.445
Sistani 85 200 21 43 0.21 0.43 0.425
Turkmen 25 200 7 11 0.07 0.11 0.125
Zartoshti 115 200 34 47 0.34 0.47 0.575
Total 883 2404 258 367 0.2146422628951747 0.305324459234609 0.3673
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) 2.047
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