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: NIPBL

Region: intronic

Annotation: None

Consequence: None

Average Genotype Quality in variant carriers: 93.00

Average Depth at the site in variant carriers: 49.00

dbSNP ID: rs181417130

ClinVar: chr5-37021013-T-C

UCSC Browser: chr5-37021013-T-C

Browse the variant in INDEX-db genome browser


Score Prediction
SIFT None None
Polyphen2 HDIV None None
Polyphen2 HVAR None None
Mutation Taster None None
Mutation Assessor None None
LRT None None
FATHMM None None
CADD Phred None .
CADD Raw None .
Allele Frequency
ExAC ALL 0.0018
ExAC SAS 0.0082
ExAC AFR 9.804e-05
ExAC AMR 8.672e-05
ExAC EAS 0
ExAC FIN 0.0006
ExAC NFE 0.0010
ExAC OTH 0.0044
1000 Genomes 0.00179712