Variant: chr17-15942832-C-T

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 2 2 0 2
Allele Number 350 202 148 350
Allele Frequency 0.00571 0.00990 0.00000 0.00571
Number of Homozygotes 0 0 0 0

Gene: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.G6561A', 'p.M2187I']

Average Genotype Quality in variant carriers: 70.00

Average Depth at the site in variant carriers: 35.50

dbSNP ID: rs139149781

ClinVar: chr17-15942832-C-T

UCSC Browser: chr17-15942832-C-T

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.157 T
Polyphen2 HDIV 0.015 B
Polyphen2 HVAR 0.043 B
Mutation Taster 1.000 N
Mutation Assessor 0.55 N
LRT 0.029 N
FATHMM 1.63 T
CADD Phred 14.72 .
CADD Raw 1.754 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.0025
ExAC SAS 0.0135
ExAC AFR 9.619e-05
ExAC AMR 0.0005
ExAC EAS 0
ExAC FIN 0
ExAC NFE 0.0010
ExAC OTH 0.0055
1000 Genomes 0.00379393