12:21621737 A / G

dbSNP
rs12422251
Allele Frequency
0.26
Allele Count
625 / 2404
UCSC
12-21621737-A-G
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
62816.8
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 54 204 14 26 0.1373 0.2549 0.2647
Azeri 55 200 15 25 0.15 0.25 0.275
Baloch 65 202 12 41 0.1188 0.4059 0.3218
Gilaki 63 198 18 27 0.1818 0.2727 0.3182
Kurd 54 200 15 24 0.15 0.24 0.27
Lur 35 200 12 11 0.12 0.11 0.175
Mazani 64 200 18 28 0.18 0.28 0.32
Persian 25 200 11 3 0.11 0.03 0.125
Persian Gulf Islander 73 200 19 35 0.19 0.35 0.365
Sistani 37 200 12 13 0.12 0.13 0.185
Turkmen 30 200 9 12 0.09 0.12 0.15
Zartoshti 70 200 22 26 0.22 0.26 0.35
Total 625 2404 177 271 0.14725457570715475 0.2254575707154742 0.26
Annotations

This variant falls on 4 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) 0.031
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