12:21594028 C / T

dbSNP
rs7131777
Allele Frequency
0.08527
Allele Count
205 / 2404
UCSC
12-21594028-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
5179.17
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 8 204 4 0 0.0392 0.0 0.03922
Azeri 14 200 7 0 0.07 0.0 0.07
Baloch 24 202 11 2 0.1089 0.0198 0.1188
Gilaki 16 198 8 0 0.0808 0.0 0.08081
Kurd 12 200 6 0 0.06 0.0 0.06
Lur 6 200 3 0 0.03 0.0 0.03
Mazani 29 200 13 3 0.13 0.03 0.145
Persian 8 200 4 0 0.04 0.0 0.04
Persian Gulf Islander 20 200 9 2 0.09 0.02 0.1
Sistani 24 200 11 2 0.11 0.02 0.12
Turkmen 12 200 6 0 0.06 0.0 0.06
Zartoshti 32 200 14 4 0.14 0.04 0.16
Total 205 2404 96 13 0.07986688851913477 0.010815307820299502 0.08527
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) 2.919
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