12:21610027 G / A

dbSNP
rs6487226
Allele Frequency
0.3041
Allele Count
731 / 2404
UCSC
12-21610027-G-A
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
61993.6
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 53 204 15 23 0.1471 0.2255 0.2598
Azeri 65 200 22 21 0.22 0.21 0.325
Baloch 78 202 20 38 0.198 0.3762 0.3861
Gilaki 66 198 21 24 0.2121 0.2424 0.3333
Kurd 65 200 20 25 0.2 0.25 0.325
Lur 41 200 18 5 0.18 0.05 0.205
Mazani 75 200 24 27 0.24 0.27 0.375
Persian 15 200 4 7 0.04 0.07 0.075
Persian Gulf Islander 76 200 25 26 0.25 0.26 0.38
Sistani 60 200 20 20 0.2 0.2 0.3
Turkmen 33 200 13 7 0.13 0.07 0.165
Zartoshti 104 200 39 26 0.39 0.26 0.52
Total 731 2404 241 249 0.20049916805324458 0.20715474209650583 0.3041
Annotations

This variant falls on 7 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) 0.717
Ada Score 1.59661e-05
RF Score 0
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