Variant: chr5-36985268-A-C

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: NIPBL

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.A1986C', 'p.K662N']

Average Genotype Quality in variant carriers: 53.00

Average Depth at the site in variant carriers: 24.00

dbSNP ID: rs781213650

ClinVar: chr5-36985268-A-C

UCSC Browser: chr5-36985268-A-C

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.056 T
Polyphen2 HDIV 0.0 B
Polyphen2 HVAR 0.001 B
Mutation Taster 0.808 N
Mutation Assessor 0.205 N
LRT 0.000 D
FATHMM -3.62 D
CADD Phred 2.960 .
CADD Raw 0.038 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.0003
ExAC SAS 0.0025
ExAC AFR 0
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0
ExAC NFE 0
ExAC OTH 0.0011
1000 Genomes None