12:21595390 A / G

dbSNP
rs7136257
Allele Frequency
0.1061
Allele Count
255 / 2404
UCSC
12-21595390-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
7189.15
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 17 204 7 3 0.0686 0.0294 0.08333
Azeri 21 200 10 1 0.1 0.01 0.105
Baloch 18 202 8 2 0.0792 0.0198 0.08911
Gilaki 16 198 8 0 0.0808 0.0 0.08081
Kurd 20 200 10 0 0.1 0.0 0.1
Lur 18 200 9 0 0.09 0.0 0.09
Mazani 32 200 16 0 0.16 0.0 0.16
Persian 22 200 9 4 0.09 0.04 0.11
Persian Gulf Islander 18 200 9 0 0.09 0.0 0.09
Sistani 31 200 14 3 0.14 0.03 0.155
Turkmen 11 200 5 1 0.05 0.01 0.055
Zartoshti 31 200 14 3 0.14 0.03 0.155
Total 255 2404 119 17 0.09900166389351081 0.014143094841930116 0.1061
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) 1.361
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