Variant: chr20-31386347-T-C

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 254 143 111 254
Allele Number 350 202 148 350
Allele Frequency 0.72571 0.70792 0.75000 0.72571
Number of Homozygotes 98 52 46 98

Gene: DNMT3B

Region: exonic

Annotation: synonymous_SNV

Consequence: ['c.T1284C', 'p.C428C']

Average Genotype Quality in variant carriers: 169.29

Average Depth at the site in variant carriers: 54.13

dbSNP ID: rs6058891

ClinVar: chr20-31386347-T-C

UCSC Browser: chr20-31386347-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 0.5806
ExAC SAS 0.6599
ExAC AFR 0.8634
ExAC AMR 0.7543
ExAC EAS 0.9973
ExAC FIN 0.4550
ExAC NFE 0.4453
ExAC OTH 0.5376
1000 Genomes 0.755791