12:21631934 G / A

dbSNP
rs2284392
Allele Frequency
0.1123
Allele Count
270 / 2404
UCSC
12-21631934-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
8768.44
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 16 204 6 4 0.0588 0.0392 0.07843
Azeri 27 200 11 5 0.11 0.05 0.135
Baloch 30 202 11 8 0.1089 0.0792 0.1485
Gilaki 10 198 5 0 0.0505 0.0 0.05051
Kurd 27 200 12 3 0.12 0.03 0.135
Lur 15 200 6 3 0.06 0.03 0.075
Mazani 24 200 12 0 0.12 0.0 0.12
Persian 19 200 9 1 0.09 0.01 0.095
Persian Gulf Islander 18 200 7 4 0.07 0.04 0.09
Sistani 27 200 12 3 0.12 0.03 0.135
Turkmen 23 200 8 7 0.08 0.07 0.115
Zartoshti 34 200 15 4 0.15 0.04 0.17
Total 270 2404 114 42 0.09484193011647254 0.03494176372712146 0.1123
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) 0.185
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