12:21621817 A / C

dbSNP
rs10841827
Allele Frequency
0.07363
Allele Count
177 / 2404
UCSC
12-21621817-A-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
8434.57
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 18 204 8 2 0.0784 0.0196 0.08824
Azeri 21 200 7 7 0.07 0.07 0.105
Baloch 35 202 14 7 0.1386 0.0693 0.1733
Gilaki 9 198 3 3 0.0303 0.0303 0.04545
Kurd 17 200 6 5 0.06 0.05 0.085
Lur 5 200 2 1 0.02 0.01 0.025
Mazani 14 200 6 2 0.06 0.02 0.07
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 24 200 8 8 0.08 0.08 0.12
Sistani 20 200 8 4 0.08 0.04 0.1
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 12 200 5 2 0.05 0.02 0.06
Total 177 2404 68 41 0.056572379367720464 0.03410981697171381 0.07363
Annotations

This variant falls on 3 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) 1.467
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