Variant: chr17-15961005-G-A

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 1 0 1 1
Allele Number 350 202 148 350
Allele Frequency 0.00286 0.00000 0.00676 0.00286
Number of Homozygotes 0 0 0 0

Gene: NCOR1

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.C5906T', 'p.T1969I']

Average Genotype Quality in variant carriers: 60.00

Average Depth at the site in variant carriers: 39.00

dbSNP ID: rs576951960

ClinVar: chr17-15961005-G-A

UCSC Browser: chr17-15961005-G-A

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.571 T
Polyphen2 HDIV 0.15 B
Polyphen2 HVAR 0.019 B
Mutation Taster 0.964 N
Mutation Assessor 0 N
LRT 0.055 N
FATHMM 1.55 T
CADD Phred 20.3 .
CADD Raw 2.612 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.0003
ExAC SAS 0.0020
ExAC AFR 0
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0
ExAC NFE 0
ExAC OTH 0
1000 Genomes 0.000599042