12:21608732 C / T

dbSNP
rs2302499
Allele Frequency
0.06448
Allele Count
155 / 2404
UCSC
12-21608732-C-T
ClinVar
Click to search for variant in Clinvar
Ensembl
Click to search for variant in Ensembl
gnomAD Browser
Click to search for variant in gnomAD Browser
Site Quality
6354.6
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 7 204 3 1 0.0294 0.0098 0.03431
Azeri 18 200 9 0 0.09 0.0 0.09
Baloch 14 202 6 2 0.0594 0.0198 0.06931
Gilaki 7 198 3 1 0.0303 0.0101 0.03535
Kurd 18 200 9 0 0.09 0.0 0.09
Lur 8 200 4 0 0.04 0.0 0.04
Mazani 22 200 10 2 0.1 0.02 0.11
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 33 200 15 3 0.15 0.03 0.165
Sistani 12 200 6 0 0.06 0.0 0.06
Turkmen 4 200 2 0 0.02 0.0 0.02
Zartoshti 10 200 5 0 0.05 0.0 0.05
Total 155 2404 73 9 0.06073211314475874 0.0074875207986688855 0.06448
Annotations

This variant falls on 8 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) 2.968
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