12:21630794 G / C

dbSNP
rs1943115313
Allele Frequency
0.000416
Allele Count
1 / 2404
UCSC
12-21630794-G-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
557.46
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 0 204 0 0 0.0 0.0 0
Azeri 0 200 0 0 0.0 0.0 0
Baloch 0 202 0 0 0.0 0.0 0
Gilaki 0 198 0 0 0.0 0.0 0
Kurd 0 200 0 0 0.0 0.0 0
Lur 0 200 0 0 0.0 0.0 0
Mazani 0 200 0 0 0.0 0.0 0
Persian 1 200 0 1 0.0 0.01 0.005
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 0 200 0 0 0.0 0.0 0
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 0 200 0 0 0.0 0.0 0
Total 1 2404 0 1 0.0 0.0008319467554076539 0.000416
Annotations

This variant falls on 2 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) Damaging
Polyphen2 HVAR Pred (C) Possibly damaging
MutationTaster Pred (C) Damaging
MutationAssessor Pred (C) Predicted non-functional (low)
FATHMM Pred (C) Tolerated
FATHMM MKL Coding Pred (C) Damaging
N of 6 Predicted Damaging 4 of 6 Predicted as Damaging
N of 6 Predicted Tolerated 2 of 6 Predicted as Tolerated
MetaSVM Pred Tolerated
MetaLR Pred Tolerated
GERP++ RS -0.65
CADD Score (Phred Scale) 24.1
Ada Score ?
RF Score ?
PDIVAS Score ?
ConSplice Score ?
REVEL Score 0.217

Quality Metrics

Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above