12:21595064 G / A

dbSNP
rs7136175
Allele Frequency
0.05324
Allele Count
128 / 2404
UCSC
12-21595064-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
3419.75
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 2 1 0.0196 0.0098 0.02451
Azeri 4 200 2 0 0.02 0.0 0.02
Baloch 15 202 7 1 0.0693 0.0099 0.07426
Gilaki 6 198 3 0 0.0303 0.0 0.0303
Kurd 11 200 4 3 0.04 0.03 0.055
Lur 8 200 4 0 0.04 0.0 0.04
Mazani 18 200 8 2 0.08 0.02 0.09
Persian 10 200 4 2 0.04 0.02 0.05
Persian Gulf Islander 9 200 4 1 0.04 0.01 0.045
Sistani 18 200 9 0 0.09 0.0 0.09
Turkmen 11 200 4 3 0.04 0.03 0.055
Zartoshti 13 200 6 1 0.06 0.01 0.065
Total 128 2404 57 14 0.04742096505823627 0.011647254575707155 0.05324
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) 3.936
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