12:21649539 A / C

dbSNP
rs12231436
Allele Frequency
0.01913
Allele Count
46 / 2404
UCSC
12-21649539-A-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
1041.59
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 1 204 0 1 0.0 0.0098 0.004902
Azeri 2 200 1 0 0.01 0.0 0.01
Baloch 4 202 2 0 0.0198 0.0 0.0198
Gilaki 4 198 2 0 0.0202 0.0 0.0202
Kurd 4 200 2 0 0.02 0.0 0.02
Lur 0 200 0 0 0.0 0.0 0
Mazani 5 200 2 1 0.02 0.01 0.025
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 6 200 3 0 0.03 0.0 0.03
Sistani 9 200 4 1 0.04 0.01 0.045
Turkmen 5 200 2 1 0.02 0.01 0.025
Zartoshti 4 200 2 0 0.02 0.0 0.02
Total 46 2404 21 4 0.01747088186356073 0.0033277870216306157 0.01913
Annotations

This variant falls on 8 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) 1.194
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