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.A92G', 'p.N31S']

Average Genotype Quality in variant carriers: 48.00

Average Depth at the site in variant carriers: 68.00

dbSNP ID: rs202117316

ClinVar: chr17-16097792-T-C

UCSC Browser: chr17-16097792-T-C

Browse the variant in INDEX-db genome browser


Score Prediction
SIFT 1.0 T
Polyphen2 HDIV 0.0 B
Polyphen2 HVAR 0.001 B
Mutation Taster 1.000 N
Mutation Assessor -1.39 N
LRT 0.000 N
FATHMM 1.69 T
CADD Phred 0.373 .
CADD Raw -0.407 .
Allele Frequency
ExAC ALL 2.401e-05
ExAC SAS 0
ExAC AFR 0
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0
ExAC NFE 4.501e-05
ExAC OTH 0
1000 Genomes None