INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 17 8 9 17
Allele Number 350 202 148 350
Allele Frequency 0.04857 0.03960 0.06081 0.04857
Number of Homozygotes 0 0 0 0

Gene: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.G244A', 'p.E82K']

Average Genotype Quality in variant carriers: 77.71

Average Depth at the site in variant carriers: 57.47

dbSNP ID: rs76780359

ClinVar: chr17-16068340-C-T

UCSC Browser: chr17-16068340-C-T

Browse the variant in INDEX-db genome browser


Score Prediction
SIFT 0.024 D
Polyphen2 HDIV 1.0 D
Polyphen2 HVAR 0.999 D
Mutation Taster 1 D
Mutation Assessor 2.19 M
LRT 0.000 D
FATHMM 0.88 T
CADD Phred 32 .
CADD Raw 6.690 .
Allele Frequency
ExAC ALL 0.4277
ExAC SAS 0.4696
ExAC AFR 0.4136
ExAC AMR 0.4487
ExAC EAS 0.4021
ExAC FIN 0.4560
ExAC NFE 0.4161
ExAC OTH 0.4291
1000 Genomes None