12:21639591 G / C

dbSNP
rs7964104
Allele Frequency
0.5377
Allele Count
1291 / 2401
UCSC
12-21639591-G-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
119084.0
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 134 204 67 0 0.6569 0.0 0.6569
Azeri 90 200 45 0 0.45 0.0 0.45
Baloch 144 202 72 0 0.7129 0.0 0.7129
Gilaki 43 197 22 0 0.2234 0.0 0.2183
Kurd 118 200 59 0 0.59 0.0 0.59
Lur 106 200 53 0 0.53 0.0 0.53
Mazani 140 200 70 0 0.7 0.0 0.7
Persian 60 200 30 0 0.3 0.0 0.3
Persian Gulf Islander 118 199 58 2 0.5829 0.0201 0.593
Sistani 129 199 65 0 0.6533 0.0 0.6482
Turkmen 60 200 30 0 0.3 0.0 0.3
Zartoshti 149 200 74 1 0.74 0.01 0.745
Total 1291 2401 645 3 0.5372761349437735 0.0024989587671803417 0.5377
Annotations

This variant falls on 4 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) 0.161
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