12:21591785 G / C

dbSNP
rs2417979
Allele Frequency
0.0416
Allele Count
100 / 2404
UCSC
12-21591785-G-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
2141.4
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 6 204 3 0 0.0294 0.0 0.02941
Azeri 8 200 4 0 0.04 0.0 0.04
Baloch 6 202 3 0 0.0297 0.0 0.0297
Gilaki 8 198 4 0 0.0404 0.0 0.0404
Kurd 8 200 4 0 0.04 0.0 0.04
Lur 8 200 4 0 0.04 0.0 0.04
Mazani 9 200 4 1 0.04 0.01 0.045
Persian 3 200 1 1 0.01 0.01 0.015
Persian Gulf Islander 12 200 6 0 0.06 0.0 0.06
Sistani 14 200 7 0 0.07 0.0 0.07
Turkmen 6 200 3 0 0.03 0.0 0.03
Zartoshti 12 200 6 0 0.06 0.0 0.06
Total 100 2404 49 2 0.04076539101497504 0.0016638935108153079 0.0416
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) 2.642
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