Variant: chr20-31386449-T-C

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 214 117 97 214
Allele Number 350 202 148 350
Allele Frequency 0.61143 0.57921 0.65541 0.61143
Number of Homozygotes 86 45 41 86

Gene: DNMT3B

Region: exonic

Annotation: synonymous_SNV

Consequence: ['c.T1386C', 'p.Y462Y']

Average Genotype Quality in variant carriers: 141.77

Average Depth at the site in variant carriers: 43.41

dbSNP ID: rs2424922

ClinVar: chr20-31386449-T-C

UCSC Browser: chr20-31386449-T-C

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT None None
Polyphen2 HDIV None None
Polyphen2 HVAR None None
Mutation Taster None None
Mutation Assessor None None
LRT None None
FATHMM None None
CADD Phred None .
CADD Raw None .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.5792
ExAC SAS 0.6586
ExAC AFR 0.8646
ExAC AMR 0.7533
ExAC EAS 0.9973
ExAC FIN 0.4501
ExAC NFE 0.4450
ExAC OTH 0.5348
1000 Genomes 0.755791