12:21602943 C / T

dbSNP
rs4762826
Allele Frequency
0.1123
Allele Count
270 / 2404
UCSC
12-21602943-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
16919.1
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 23 204 11 1 0.1078 0.0098 0.1127
Azeri 16 200 8 0 0.08 0.0 0.08
Baloch 43 202 15 13 0.1485 0.1287 0.2129
Gilaki 7 198 3 1 0.0303 0.0101 0.03535
Kurd 25 200 10 5 0.1 0.05 0.125
Lur 1 200 0 1 0.0 0.01 0.005
Mazani 35 200 14 7 0.14 0.07 0.175
Persian 2 200 1 0 0.01 0.0 0.01
Persian Gulf Islander 51 200 20 11 0.2 0.11 0.255
Sistani 25 200 11 3 0.11 0.03 0.125
Turkmen 0 200 0 0 0.0 0.0 0
Zartoshti 42 200 16 10 0.16 0.1 0.21
Total 270 2404 109 52 0.09068219633943428 0.04326123128119801 0.1123
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) 1.784
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