12:21629655 T / C

dbSNP
rs2159944
Allele Frequency
0.07196
Allele Count
173 / 2404
UCSC
12-21629655-T-C
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
11817.2
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 14 204 4 6 0.0392 0.0588 0.06863
Azeri 14 200 2 10 0.02 0.1 0.07
Baloch 20 202 7 6 0.0693 0.0594 0.09901
Gilaki 18 198 6 6 0.0606 0.0606 0.09091
Kurd 15 200 4 7 0.04 0.07 0.075
Lur 5 200 1 3 0.01 0.03 0.025
Mazani 12 200 5 2 0.05 0.02 0.06
Persian 5 200 2 1 0.02 0.01 0.025
Persian Gulf Islander 28 200 8 12 0.08 0.12 0.14
Sistani 20 200 4 12 0.04 0.12 0.1
Turkmen 6 200 2 2 0.02 0.02 0.03
Zartoshti 16 200 4 8 0.04 0.08 0.08
Total 173 2404 49 75 0.04076539101497504 0.06239600665557404 0.07196
Annotations

This variant falls on 2 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) 3.104
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