12:21605366 G / T

dbSNP
rs11046064
Allele Frequency
0.1344
Allele Count
323 / 2404
UCSC
12-21605366-G-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
25872.3
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 27 204 10 7 0.098 0.0686 0.1324
Azeri 35 200 14 7 0.14 0.07 0.175
Baloch 46 202 14 18 0.1386 0.1782 0.2277
Gilaki 27 198 11 5 0.1111 0.0505 0.1364
Kurd 40 200 12 16 0.12 0.16 0.2
Lur 16 200 7 2 0.07 0.02 0.08
Mazani 37 200 15 7 0.15 0.07 0.185
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 44 200 14 16 0.14 0.16 0.22
Sistani 18 200 8 2 0.08 0.02 0.09
Turkmen 4 200 1 2 0.01 0.02 0.02
Zartoshti 27 200 12 3 0.12 0.03 0.135
Total 323 2404 119 85 0.09900166389351081 0.07071547420965059 0.1344
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) 1.155
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