Variant: chr17-15965042-T-C

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.A5554G', 'p.N1852D']

Average Genotype Quality in variant carriers: 135.00

Average Depth at the site in variant carriers: 78.00

dbSNP ID: rs563704124

ClinVar: chr17-15965042-T-C

UCSC Browser: chr17-15965042-T-C

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.329 T
Polyphen2 HDIV 0.104 B
Polyphen2 HVAR 0.102 B
Mutation Taster 1.000 N
Mutation Assessor 1.1 L
LRT 0.074 N
FATHMM 0.94 T
CADD Phred 8.575 .
CADD Raw 0.662 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 8.29e-06
ExAC SAS 6.056e-05
ExAC AFR 0
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0
ExAC NFE 0
ExAC OTH 0
1000 Genomes 0.000199681