Variant: chr20-31387954-C-G

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 163 99 64 163
Allele Number 350 202 148 350
Allele Frequency 0.46571 0.49010 0.43243 0.46571
Number of Homozygotes 59 35 24 59

Gene: DNMT3B

Region: intronic

Annotation: None

Consequence: None

Average Genotype Quality in variant carriers: 138.41

Average Depth at the site in variant carriers: 48.98

dbSNP ID: rs1997797

ClinVar: chr20-31387954-C-G

UCSC Browser: chr20-31387954-C-G

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 0.5663
ExAC SAS 0.6593
ExAC AFR 0.7251
ExAC AMR 0.7444
ExAC EAS 0.9973
ExAC FIN 0.4518
ExAC NFE 0.4436
ExAC OTH 0.5275
1000 Genomes 0.714058