12:21611472 G / A

dbSNP
rs12423128
Allele Frequency
0.03577
Allele Count
86 / 2404
UCSC
12-21611472-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
1906.13
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 6 204 3 0 0.0294 0.0 0.02941
Azeri 6 200 3 0 0.03 0.0 0.03
Baloch 2 202 1 0 0.0099 0.0 0.009901
Gilaki 4 198 2 0 0.0202 0.0 0.0202
Kurd 6 200 3 0 0.03 0.0 0.03
Lur 11 200 5 1 0.05 0.01 0.055
Mazani 16 200 8 0 0.08 0.0 0.08
Persian 4 200 2 0 0.02 0.0 0.02
Persian Gulf Islander 3 200 1 1 0.01 0.01 0.015
Sistani 12 200 6 0 0.06 0.0 0.06
Turkmen 6 200 3 0 0.03 0.0 0.03
Zartoshti 10 200 5 0 0.05 0.0 0.05
Total 86 2404 42 2 0.03494176372712146 0.0016638935108153079 0.03577
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) 3.059
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