Variant: chr17-15961336-C-T

INDEX-db frequencies

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: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.G5744A', 'p.R1915Q']

Average Genotype Quality in variant carriers: 154.00

Average Depth at the site in variant carriers: 89.00

dbSNP ID: rs200722329

ClinVar: chr17-15961336-C-T

UCSC Browser: chr17-15961336-C-T

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.011 D
Polyphen2 HDIV 1.0 D
Polyphen2 HVAR 0.993 D
Mutation Taster 1 D
Mutation Assessor 1.845 L
LRT 0.000 D
FATHMM 1.49 T
CADD Phred 26.1 .
CADD Raw 5.464 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 6.596e-05
ExAC SAS 0.0003
ExAC AFR 0
ExAC AMR 0.0002
ExAC EAS 0
ExAC FIN 0
ExAC NFE 1.5e-05
ExAC OTH 0
1000 Genomes None