Variant: chr17-16068396-G-A

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 65 40 25 65
Allele Number 350 202 148 350
Allele Frequency 0.18571 0.19802 0.16892 0.18571
Number of Homozygotes 1 1 0 1

Gene: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.C188T', 'p.S63L']

Average Genotype Quality in variant carriers: 99.67

Average Depth at the site in variant carriers: 78.80

dbSNP ID: rs150910818

ClinVar: chr17-16068396-G-A

UCSC Browser: chr17-16068396-G-A

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.371 T
Polyphen2 HDIV 0.999 D
Polyphen2 HVAR 0.985 D
Mutation Taster 1 D
Mutation Assessor 0.895 L
LRT 0.000 D
FATHMM 1.92 T
CADD Phred 24.0 .
CADD Raw 4.275 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.4731
ExAC SAS 0.4830
ExAC AFR 0.4705
ExAC AMR 0.4838
ExAC EAS 0.4629
ExAC FIN 0.4746
ExAC NFE 0.4704
ExAC OTH 0.4624
1000 Genomes None