12:21598884 G / A

dbSNP
rs1476904
Allele Frequency
0.04867
Allele Count
117 / 2404
UCSC
12-21598884-G-A
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
3431.12
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 6 204 3 0 0.0294 0.0 0.02941
Azeri 2 200 1 0 0.01 0.0 0.01
Baloch 5 202 2 1 0.0198 0.0099 0.02475
Gilaki 22 198 11 0 0.1111 0.0 0.1111
Kurd 7 200 3 1 0.03 0.01 0.035
Lur 2 200 1 0 0.01 0.0 0.01
Mazani 12 200 5 2 0.05 0.02 0.06
Persian 1 200 0 1 0.0 0.01 0.005
Persian Gulf Islander 19 200 9 1 0.09 0.01 0.095
Sistani 12 200 6 0 0.06 0.0 0.06
Turkmen 12 200 6 0 0.06 0.0 0.06
Zartoshti 17 200 8 1 0.08 0.01 0.085
Total 117 2404 55 7 0.045757071547420966 0.005823627287853577 0.04867
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) 2.04
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