12:21611259 C / T

dbSNP
rs2417987
Allele Frequency
0.02038
Allele Count
49 / 2404
UCSC
12-21611259-C-T
ClinVar
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Ensembl
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gnomAD Browser
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Site Quality
997.33
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 2 204 1 0 0.0098 0.0 0.009804
Azeri 4 200 2 0 0.02 0.0 0.02
Baloch 4 202 2 0 0.0198 0.0 0.0198
Gilaki 4 198 2 0 0.0202 0.0 0.0202
Kurd 9 200 4 1 0.04 0.01 0.045
Lur 0 200 0 0 0.0 0.0 0
Mazani 8 200 4 0 0.04 0.0 0.04
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 3 200 1 1 0.01 0.01 0.015
Sistani 4 200 2 0 0.02 0.0 0.02
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 7 200 3 1 0.03 0.01 0.035
Total 49 2404 23 3 0.01913477537437604 0.0024958402662229617 0.02038
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) 4.637
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