Variant: chr17-15983373-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.G3454A', 'p.A1152T']

Average Genotype Quality in variant carriers: 57.00

Average Depth at the site in variant carriers: 36.00

dbSNP ID: rs200574326

ClinVar: chr17-15983373-C-T

UCSC Browser: chr17-15983373-C-T

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.429 T
Polyphen2 HDIV 0.002 B
Polyphen2 HVAR 0.001 B
Mutation Taster 1.000 N
Mutation Assessor 0.28 N
LRT 0.158 N
FATHMM -1.76 D
CADD Phred 0.019 .
CADD Raw -0.960 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 1.648e-05
ExAC SAS 0
ExAC AFR 9.614e-05
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0.0002
ExAC NFE 0
ExAC OTH 0
1000 Genomes 0.000399361