Variant: chr17-16097825-T-G

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 17 12 5 17
Allele Number 350 202 148 350
Allele Frequency 0.04857 0.05941 0.03378 0.04857
Number of Homozygotes 0 0 0 0

Gene: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.A59C', 'p.Y20S']

Average Genotype Quality in variant carriers: 43.94

Average Depth at the site in variant carriers: 71.82

dbSNP ID: rs73281920

ClinVar: chr17-16097825-T-G

UCSC Browser: chr17-16097825-T-G

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.361 T
Polyphen2 HDIV 1.0 D
Polyphen2 HVAR 0.999 D
Mutation Taster 1.000 D
Mutation Assessor 2.125 M
LRT 0.000 D
FATHMM 0.79 T
CADD Phred 26.3 .
CADD Raw 5.531 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.1671
ExAC SAS 0.2966
ExAC AFR 0.1681
ExAC AMR 0.1377
ExAC EAS 0.0803
ExAC FIN 0.2356
ExAC NFE 0.1464
ExAC OTH 0.2089
1000 Genomes None