12:21648945 T / A

dbSNP
rs10841835
Allele Frequency
0.02454
Allele Count
59 / 2404
UCSC
12-21648945-T-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
1331.0
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 3 204 1 1 0.0098 0.0098 0.01471
Azeri 0 200 0 0 0.0 0.0 0
Baloch 9 202 4 1 0.0396 0.0099 0.04455
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 2 200 1 0 0.01 0.0 0.01
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 12 200 5 2 0.05 0.02 0.06
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 4 200 2 0 0.02 0.0 0.02
Sistani 14 200 7 0 0.07 0.0 0.07
Turkmen 4 200 2 0 0.02 0.0 0.02
Zartoshti 5 200 2 1 0.02 0.01 0.025
Total 59 2404 27 5 0.022462562396006656 0.004159733777038269 0.02454
Annotations

This variant falls on 8 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) 3.186
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