12:21602861 G / A

dbSNP
rs149136683
Allele Frequency
0.0208
Allele Count
50 / 2404
UCSC
12-21602861-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
4442.18
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 5 204 1 3 0.0098 0.0294 0.02451
Azeri 8 200 2 4 0.02 0.04 0.04
Baloch 3 202 1 1 0.0099 0.0099 0.01485
Gilaki 6 198 2 2 0.0202 0.0202 0.0303
Kurd 2 200 1 0 0.01 0.0 0.01
Lur 6 200 3 0 0.03 0.0 0.03
Mazani 5 200 0 5 0.0 0.05 0.025
Persian 5 200 2 1 0.02 0.01 0.025
Persian Gulf Islander 5 200 0 5 0.0 0.05 0.025
Sistani 4 200 1 2 0.01 0.02 0.02
Turkmen 1 200 0 1 0.0 0.01 0.005
Zartoshti 0 200 0 0 0.0 0.0 0
Total 50 2404 13 24 0.010815307820299502 0.019966722129783693 0.0208
Annotations

This variant falls on 6 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) 0.115
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