12:21600897 A / G

dbSNP
rs144404606
Allele Frequency
0.04201
Allele Count
101 / 2404
UCSC
12-21600897-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
5307.87
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 13 204 5 3 0.049 0.0294 0.06373
Azeri 7 200 3 1 0.03 0.01 0.035
Baloch 7 202 2 3 0.0198 0.0297 0.03465
Gilaki 2 198 0 2 0.0 0.0202 0.0101
Kurd 18 200 8 2 0.08 0.02 0.09
Lur 7 200 2 3 0.02 0.03 0.035
Mazani 18 200 3 12 0.03 0.12 0.09
Persian 3 200 1 1 0.01 0.01 0.015
Persian Gulf Islander 1 200 0 1 0.0 0.01 0.005
Sistani 2 200 0 2 0.0 0.02 0.01
Turkmen 6 200 2 2 0.02 0.02 0.03
Zartoshti 17 200 3 11 0.03 0.11 0.085
Total 101 2404 29 43 0.024126455906821963 0.03577371048252912 0.04201
Annotations

This variant falls on 7 transcripts in 2 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
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