Variant: chr20-31367948-C-T

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 26 9 17 26
Allele Number 350 202 148 350
Allele Frequency 0.07429 0.04455 0.11486 0.07429
Number of Homozygotes 3 1 2 3

Gene: DNMT3B

Region: exonic

Annotation: synonymous_SNV

Consequence: ['c.C27T', 'p.S9S']

Average Genotype Quality in variant carriers: 93.96

Average Depth at the site in variant carriers: 45.48

dbSNP ID: rs6058885

ClinVar: chr20-31367948-C-T

UCSC Browser: chr20-31367948-C-T

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 0.0726
ExAC SAS 0.0675
ExAC AFR 0.1553
ExAC AMR 0.0390
ExAC EAS 0.0779
ExAC FIN 0.0777
ExAC NFE 0.0661
ExAC OTH 0.0864
1000 Genomes 0.0954473