Variant: chr17-16097786-C-T

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 1 0 1 1
Allele Number 350 202 148 350
Allele Frequency 0.00286 0.00000 0.00676 0.00286
Number of Homozygotes 0 0 0 0

Gene: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.G98A', 'p.R33H']

Average Genotype Quality in variant carriers: 48.00

Average Depth at the site in variant carriers: 72.00

dbSNP ID: rs201037902

ClinVar: chr17-16097786-C-T

UCSC Browser: chr17-16097786-C-T

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.343 T
Polyphen2 HDIV 1.0 D
Polyphen2 HVAR 0.997 D
Mutation Taster 1.000 D
Mutation Assessor 2.19 M
LRT 0.000 D
FATHMM 1.03 T
CADD Phred 33 .
CADD Raw 7.053 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 1.309e-05
ExAC SAS 0
ExAC AFR 0
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0
ExAC NFE 2.482e-05
ExAC OTH 0
1000 Genomes None