12:21593404 G / C

dbSNP
rs4762702
Allele Frequency
0.9696
Allele Count
2331 / 2404
UCSC
12-21593404-G-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
900154.0
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 199 204 99 1 0.9706 0.0098 0.9755
Azeri 194 200 97 0 0.97 0.0 0.97
Baloch 202 202 101 0 1.0 0.0 1
Gilaki 194 198 97 0 0.9798 0.0 0.9798
Kurd 193 200 96 1 0.96 0.01 0.965
Lur 194 200 97 0 0.97 0.0 0.97
Mazani 200 200 100 0 1.0 0.0 1
Persian 178 200 89 0 0.89 0.0 0.89
Persian Gulf Islander 195 200 97 1 0.97 0.01 0.975
Sistani 200 200 100 0 1.0 0.0 1
Turkmen 182 200 91 0 0.91 0.0 0.91
Zartoshti 200 200 100 0 1.0 0.0 1
Total 2331 2404 1164 3 0.9683860232945092 0.0024958402662229617 0.9696
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) 1.034
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