Variant: chr17-16068377-C-G

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 46 27 19 46
Allele Number 350 202 148 350
Allele Frequency 0.13143 0.13366 0.12838 0.13143
Number of Homozygotes 0 0 0 0

Gene: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.G207C', 'p.K69N']

Average Genotype Quality in variant carriers: 86.50

Average Depth at the site in variant carriers: 72.33

dbSNP ID: rs200020868

ClinVar: chr17-16068377-C-G

UCSC Browser: chr17-16068377-C-G

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.001 D
Polyphen2 HDIV 1.0 D
Polyphen2 HVAR 0.999 D
Mutation Taster 1.000 D
Mutation Assessor 2.19 M
LRT 0.000 D
FATHMM 0.9 T
CADD Phred 25.7 .
CADD Raw 5.293 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.4275
ExAC SAS 0.4563
ExAC AFR 0.4349
ExAC AMR 0.4425
ExAC EAS 0.4080
ExAC FIN 0.4344
ExAC NFE 0.4183
ExAC OTH 0.4260
1000 Genomes None