12:21616067 AGG / _

dbSNP
rs35887573
Allele Frequency
0.1023
Allele Count
246 / 2404
UCSC
12-21616067-AGG-_
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
14077.5
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 25 204 11 3 0.1078 0.0294 0.1225
Azeri 31 200 15 1 0.15 0.01 0.155
Baloch 29 202 11 7 0.1089 0.0693 0.1436
Gilaki 10 198 5 0 0.0505 0.0 0.05051
Kurd 23 200 10 3 0.1 0.03 0.115
Lur 6 200 3 0 0.03 0.0 0.03
Mazani 24 200 12 0 0.12 0.0 0.12
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 43 200 19 5 0.19 0.05 0.215
Sistani 22 200 10 2 0.1 0.02 0.11
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 25 200 12 1 0.12 0.01 0.125
Total 246 2404 112 22 0.09317803660565724 0.018302828618968387 0.1023
Annotations

This variant falls on 5 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) 3.688
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