12:21628812 G / A

dbSNP
rs10160843
Allele Frequency
0.9979
Allele Count
2399 / 2404
UCSC
12-21628812-G-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
1423190.0
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 203 204 101 1 0.9902 0.0098 0.9951
Azeri 200 200 100 0 1.0 0.0 1
Baloch 202 202 101 0 1.0 0.0 1
Gilaki 198 198 99 0 1.0 0.0 1
Kurd 199 200 99 1 0.99 0.01 0.995
Lur 200 200 100 0 1.0 0.0 1
Mazani 200 200 100 0 1.0 0.0 1
Persian 200 200 100 0 1.0 0.0 1
Persian Gulf Islander 199 200 99 1 0.99 0.01 0.995
Sistani 200 200 100 0 1.0 0.0 1
Turkmen 198 200 99 0 0.99 0.0 0.99
Zartoshti 200 200 100 0 1.0 0.0 1
Total 2399 2404 1198 3 0.9966722129783694 0.0024958402662229617 0.9979
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) ?
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) 2.514
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