12:21605477 A / C

dbSNP
rs10841816
Allele Frequency
0.03785
Allele Count
91 / 2404
UCSC
12-21605477-A-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
3874.23
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 8 204 4 0 0.0392 0.0 0.03922
Azeri 2 200 1 0 0.01 0.0 0.01
Baloch 8 202 4 0 0.0396 0.0 0.0396
Gilaki 2 198 1 0 0.0101 0.0 0.0101
Kurd 4 200 2 0 0.02 0.0 0.02
Lur 6 200 3 0 0.03 0.0 0.03
Mazani 6 200 3 0 0.03 0.0 0.03
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 17 200 8 1 0.08 0.01 0.085
Sistani 13 200 6 1 0.06 0.01 0.065
Turkmen 12 200 6 0 0.06 0.0 0.06
Zartoshti 5 200 2 1 0.02 0.01 0.025
Total 91 2404 44 3 0.036605657237936774 0.0024958402662229617 0.03785
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) 0.239
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