12:21654407 G / A

dbSNP
rs1061627
Allele Frequency
0.121
Allele Count
291 / 2404
UCSC
12-21654407-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
9361.91
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 10 200 5 0 0.05 0.0 0.05
Baloch 35 202 17 1 0.1683 0.0099 0.1733
Gilaki 16 198 8 0 0.0808 0.0 0.08081
Kurd 17 200 8 1 0.08 0.01 0.085
Lur 14 200 7 0 0.07 0.0 0.07
Mazani 58 200 29 0 0.29 0.0 0.29
Persian 14 200 6 2 0.06 0.02 0.07
Persian Gulf Islander 16 200 7 2 0.07 0.02 0.08
Sistani 46 200 23 0 0.23 0.0 0.23
Turkmen 18 200 9 0 0.09 0.0 0.09
Zartoshti 35 200 16 3 0.16 0.03 0.175
Total 291 2404 141 9 0.11730449251247921 0.0074875207986688855 0.121
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) 9.205
Ada Score 7.01439e-05
RF Score 0.008
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