Variant: chr20-31384880-C-A

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 12 4 8 12
Allele Number 350 202 148 350
Allele Frequency 0.03429 0.01980 0.05405 0.03429
Number of Homozygotes 1 0 1 1

Gene: DNMT3B

Region: intronic

Annotation: None

Consequence: None

Average Genotype Quality in variant carriers: 83.45

Average Depth at the site in variant carriers: 46.55

dbSNP ID: rs6057648

ClinVar: chr20-31384880-C-A

UCSC Browser: chr20-31384880-C-A

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 0.0285
ExAC SAS 0.0429
ExAC AFR 0.1103
ExAC AMR 0.0104
ExAC EAS 0.0014
ExAC FIN 0.0192
ExAC NFE 0.0213
ExAC OTH 0.0194
1000 Genomes 0.0870607