12:21612914 C / T

dbSNP
rs7134195
Allele Frequency
0.05408
Allele Count
130 / 2404
UCSC
12-21612914-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
3909.39
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 7 0 0.0686 0.0 0.06863
Azeri 6 200 3 0 0.03 0.0 0.03
Baloch 12 202 6 0 0.0594 0.0 0.05941
Gilaki 4 198 2 0 0.0202 0.0 0.0202
Kurd 8 200 4 0 0.04 0.0 0.04
Lur 8 200 4 0 0.04 0.0 0.04
Mazani 22 200 11 0 0.11 0.0 0.11
Persian 6 200 3 0 0.03 0.0 0.03
Persian Gulf Islander 10 200 5 0 0.05 0.0 0.05
Sistani 22 200 11 0 0.11 0.0 0.11
Turkmen 10 200 5 0 0.05 0.0 0.05
Zartoshti 8 200 4 0 0.04 0.0 0.04
Total 130 2404 65 0 0.054076539101497505 0.0 0.05408
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) 2.506
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