Variant: chr17-16097870-C-A

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 46 28 18 46
Allele Number 350 202 148 350
Allele Frequency 0.13143 0.13861 0.12162 0.13143
Number of Homozygotes 0 0 0 0

Gene: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.G14T', 'p.G5V']

Average Genotype Quality in variant carriers: 56.63

Average Depth at the site in variant carriers: 67.72

dbSNP ID: rs76145228

ClinVar: chr17-16097870-C-A

UCSC Browser: chr17-16097870-C-A

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.134 T
Polyphen2 HDIV 1.0 D
Polyphen2 HVAR 1.0 D
Mutation Taster 1 D
Mutation Assessor 1.61 L
LRT 0.000 D
FATHMM 1.36 T
CADD Phred 26.4 .
CADD Raw 5.574 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.3841
ExAC SAS 0.4476
ExAC AFR 0.3742
ExAC AMR 0.3789
ExAC EAS 0.3147
ExAC FIN 0.4024
ExAC NFE 0.3761
ExAC OTH 0.3891
1000 Genomes None