INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 1 1 0 1
Allele Number 350 202 148 350
Allele Frequency 0.00286 0.00495 0.00000 0.00286
Number of Homozygotes 0 0 0 0

Gene: DNMT3B

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.T1049C', 'p.F350S']

Average Genotype Quality in variant carriers: 113.00

Average Depth at the site in variant carriers: 57.00

dbSNP ID: rs150736372

ClinVar: chr20-31384635-T-C

UCSC Browser: chr20-31384635-T-C

Browse the variant in INDEX-db genome browser


Score Prediction
SIFT 0.659 T
Polyphen2 HDIV 0.001 B
Polyphen2 HVAR 0.005 B
Mutation Taster 1 D
Mutation Assessor 2.24 M
LRT 0.000 N
FATHMM -4.02 D
CADD Phred 20.5 .
CADD Raw 2.650 .
Allele Frequency
ExAC ALL 0.0002
ExAC SAS 0.0012
ExAC AFR 0
ExAC AMR 0.0003
ExAC EAS 0
ExAC FIN 0
ExAC NFE 0
ExAC OTH 0
1000 Genomes None