12:21615249 G / T

dbSNP
rs576450850
Allele Frequency
0.04326
Allele Count
104 / 2404
UCSC
12-21615249-G-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
14813.6
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 0 7 0.0 0.0686 0.03431
Azeri 4 200 1 2 0.01 0.02 0.02
Baloch 16 202 2 12 0.0198 0.1188 0.07921
Gilaki 8 198 2 4 0.0202 0.0404 0.0404
Kurd 7 200 0 7 0.0 0.07 0.035
Lur 5 200 2 1 0.02 0.01 0.025
Mazani 10 200 1 8 0.01 0.08 0.05
Persian 3 200 1 1 0.01 0.01 0.015
Persian Gulf Islander 15 200 1 13 0.01 0.13 0.075
Sistani 6 200 0 6 0.0 0.06 0.03
Turkmen 2 200 1 0 0.01 0.0 0.01
Zartoshti 21 200 3 15 0.03 0.15 0.105
Total 104 2404 14 76 0.011647254575707155 0.0632279534109817 0.04326
Annotations

This variant falls on 6 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) 2.503
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