12:21610800 T / G

dbSNP
rs78169106
Allele Frequency
0.007903
Allele Count
19 / 2404
UCSC
12-21610800-T-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
287.9
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 2 204 1 0 0.0098 0.0 0.009804
Azeri 0 200 0 0 0.0 0.0 0
Baloch 2 202 1 0 0.0099 0.0 0.009901
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 2 200 1 0 0.01 0.0 0.01
Lur 0 200 0 0 0.0 0.0 0
Mazani 9 200 4 1 0.04 0.01 0.045
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 0 200 0 0 0.0 0.0 0
Sistani 0 200 0 0 0.0 0.0 0
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 0 200 0 0 0.0 0.0 0
Total 19 2404 9 1 0.0074875207986688855 0.0008319467554076539 0.007903
Annotations

This variant falls on 7 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) 0.033
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