12:21650616 G / C

dbSNP
rs7301961
Allele Frequency
0.08735
Allele Count
210 / 2404
UCSC
12-21650616-G-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
6863.29
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 8 204 4 0 0.0392 0.0 0.03922
Azeri 8 200 4 0 0.04 0.0 0.04
Baloch 32 202 16 0 0.1584 0.0 0.1584
Gilaki 14 198 7 0 0.0707 0.0 0.07071
Kurd 8 200 4 0 0.04 0.0 0.04
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 22 200 11 0 0.11 0.0 0.11
Persian 16 200 8 0 0.08 0.0 0.08
Persian Gulf Islander 16 200 8 0 0.08 0.0 0.08
Sistani 32 200 16 0 0.16 0.0 0.16
Turkmen 28 200 14 0 0.14 0.0 0.14
Zartoshti 24 200 12 0 0.12 0.0 0.12
Total 210 2404 105 0 0.08735440931780367 0.0 0.08735
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) 0.415
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