12:21600953 G / A

dbSNP
rs10770811
Allele Frequency
0.9684
Allele Count
2328 / 2404
UCSC
12-21600953-G-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
472313.0
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 197 204 98 1 0.9608 0.0098 0.9657
Azeri 198 200 99 0 0.99 0.0 0.99
Baloch 202 202 101 0 1.0 0.0 1
Gilaki 162 198 81 0 0.8182 0.0 0.8182
Kurd 195 200 97 1 0.97 0.01 0.975
Lur 192 200 96 0 0.96 0.0 0.96
Mazani 194 200 97 0 0.97 0.0 0.97
Persian 194 200 97 0 0.97 0.0 0.97
Persian Gulf Islander 199 200 99 1 0.99 0.01 0.995
Sistani 197 200 98 1 0.98 0.01 0.985
Turkmen 200 200 100 0 1.0 0.0 1
Zartoshti 198 200 99 0 0.99 0.0 0.99
Total 2328 2404 1162 4 0.9667221297836939 0.0033277870216306157 0.9684
Annotations

This variant falls on 7 transcripts in 2 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) 7.65
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