12:21629987 T / C

dbSNP
rs917854
Allele Frequency
0.9963
Allele Count
2395 / 2404
UCSC
12-21629987-T-C
ClinVar
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Ensembl
Click to search for variant in Ensembl
gnomAD Browser
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Site Quality
1088510.0
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 203 204 101 1 0.9902 0.0098 0.9951
Azeri 200 200 100 0 1.0 0.0 1
Baloch 201 202 100 1 0.9901 0.0099 0.995
Gilaki 196 198 97 2 0.9798 0.0202 0.9899
Kurd 199 200 99 1 0.99 0.01 0.995
Lur 200 200 100 0 1.0 0.0 1
Mazani 200 200 100 0 1.0 0.0 1
Persian 200 200 100 0 1.0 0.0 1
Persian Gulf Islander 199 200 99 1 0.99 0.01 0.995
Sistani 200 200 100 0 1.0 0.0 1
Turkmen 197 200 98 1 0.98 0.01 0.985
Zartoshti 200 200 100 0 1.0 0.0 1
Total 2395 2404 1194 7 0.9933444259567388 0.005823627287853577 0.9963
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) 2.132
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