Variant: chr17-16068383-G-A

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 51 30 21 51
Allele Number 350 202 148 350
Allele Frequency 0.14571 0.14851 0.14189 0.14571
Number of Homozygotes 0 0 0 0

Gene: NCOR1

Region: exonic

Annotation: synonymous_SNV

Consequence: ['c.C201T', 'p.L67L']

Average Genotype Quality in variant carriers: 88.76

Average Depth at the site in variant carriers: 75.41

dbSNP ID: rs199892481

ClinVar: chr17-16068383-G-A

UCSC Browser: chr17-16068383-G-A

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT None None
Polyphen2 HDIV None None
Polyphen2 HVAR None None
Mutation Taster None None
Mutation Assessor None None
LRT None None
FATHMM None None
CADD Phred None .
CADD Raw None .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.4310
ExAC SAS 0.4570
ExAC AFR 0.4374
ExAC AMR 0.4444
ExAC EAS 0.4119
ExAC FIN 0.4393
ExAC NFE 0.4227
ExAC OTH 0.4302
1000 Genomes None