12:21650469 G / A

dbSNP
rs7301779
Allele Frequency
0.08153
Allele Count
196 / 2404
UCSC
12-21650469-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
6685.34
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 12 204 6 0 0.0588 0.0 0.05882
Azeri 16 200 8 0 0.08 0.0 0.08
Baloch 8 202 4 0 0.0396 0.0 0.0396
Gilaki 16 198 8 0 0.0808 0.0 0.08081
Kurd 18 200 9 0 0.09 0.0 0.09
Lur 10 200 5 0 0.05 0.0 0.05
Mazani 22 200 11 0 0.11 0.0 0.11
Persian 18 200 9 0 0.09 0.0 0.09
Persian Gulf Islander 18 200 9 0 0.09 0.0 0.09
Sistani 22 200 11 0 0.11 0.0 0.11
Turkmen 22 200 11 0 0.11 0.0 0.11
Zartoshti 14 200 7 0 0.07 0.0 0.07
Total 196 2404 98 0 0.08153078202995008 0.0 0.08153
Annotations

This variant falls on 8 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) 1.908
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