12:21650588 A / C

dbSNP
rs7301591
Allele Frequency
0.09151
Allele Count
220 / 2404
UCSC
12-21650588-A-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
7137.68
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 4 204 2 0 0.0196 0.0 0.01961
Azeri 6 200 3 0 0.03 0.0 0.03
Baloch 30 202 15 0 0.1485 0.0 0.1485
Gilaki 20 198 10 0 0.101 0.0 0.101
Kurd 12 200 6 0 0.06 0.0 0.06
Lur 8 200 4 0 0.04 0.0 0.04
Mazani 18 200 9 0 0.09 0.0 0.09
Persian 22 200 11 0 0.11 0.0 0.11
Persian Gulf Islander 18 200 9 0 0.09 0.0 0.09
Sistani 32 200 16 0 0.16 0.0 0.16
Turkmen 26 200 13 0 0.13 0.0 0.13
Zartoshti 24 200 12 0 0.12 0.0 0.12
Total 220 2404 110 0 0.09151414309484193 0.0 0.09151
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) 0.787
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