Variant: chr17-15976868-C-T

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 1 1 0 1
Allele Number 350 202 148 350
Allele Frequency 0.00286 0.00495 0.00000 0.00286
Number of Homozygotes 0 0 0 0

Gene: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.G3734A', 'p.R1245Q']

Average Genotype Quality in variant carriers: 56.00

Average Depth at the site in variant carriers: 41.00

dbSNP ID: rs139458532

ClinVar: chr17-15976868-C-T

UCSC Browser: chr17-15976868-C-T

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.011 D
Polyphen2 HDIV 0.999 D
Polyphen2 HVAR 0.99 D
Mutation Taster 1 D
Mutation Assessor 1.04 L
LRT 0.000 D
FATHMM -1.63 D
CADD Phred 32 .
CADD Raw 6.715 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.0008
ExAC SAS 0.0022
ExAC AFR 0.0003
ExAC AMR 0.0003
ExAC EAS 0
ExAC FIN 0.0002
ExAC NFE 0.0008
ExAC OTH 0
1000 Genomes 0.000998403