Variant: chr17-16068463-C-T

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 17 10 7 17
Allele Number 350 202 148 350
Allele Frequency 0.04857 0.04950 0.04730 0.04857
Number of Homozygotes 0 0 0 0

Gene: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.G121A', 'p.G41R']

Average Genotype Quality in variant carriers: 90.76

Average Depth at the site in variant carriers: 98.47

dbSNP ID: rs74453660

ClinVar: chr17-16068463-C-T

UCSC Browser: chr17-16068463-C-T

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.089 T
Polyphen2 HDIV 0.997 D
Polyphen2 HVAR 0.848 P
Mutation Taster 0.840 D
Mutation Assessor 1.245 L
LRT 0.022 N
FATHMM 1.51 T
CADD Phred 24.5 .
CADD Raw 4.658 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.3197
ExAC SAS 0.3240
ExAC AFR 0.2594
ExAC AMR 0.2291
ExAC EAS 0.2405
ExAC FIN 0.3492
ExAC NFE 0.3509
ExAC OTH 0.2927
1000 Genomes None