Variant: chr17-16068343-G-A

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 19 8 11 19
Allele Number 350 202 148 350
Allele Frequency 0.05429 0.03960 0.07432 0.05429
Number of Homozygotes 0 0 0 0

Gene: NCOR1

Region: exonic

Annotation: stopgain

Consequence: ['c.C241T', 'p.R81X']

Average Genotype Quality in variant carriers: 76.47

Average Depth at the site in variant carriers: 57.26

dbSNP ID: rs78230791

ClinVar: chr17-16068343-G-A

UCSC Browser: chr17-16068343-G-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 1 A
Mutation Assessor None None
LRT 0.000 D
FATHMM None None
CADD Phred 35 .
CADD Raw 9.225 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.4285
ExAC SAS 0.4697
ExAC AFR 0.4140
ExAC AMR 0.4492
ExAC EAS 0.4025
ExAC FIN 0.4569
ExAC NFE 0.4173
ExAC OTH 0.4281
1000 Genomes None