INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 38 23 15 38
Allele Number 350 202 148 350
Allele Frequency 0.10857 0.11386 0.10135 0.10857
Number of Homozygotes 6 5 1 6

Gene: NIPBL

Region: intronic

Annotation: None

Consequence: None

Average Genotype Quality in variant carriers: 68.06

Average Depth at the site in variant carriers: 32.69

dbSNP ID: rs62654860

ClinVar: chr5-37003501-A-G

UCSC Browser: chr5-37003501-A-G

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 0.1297
ExAC SAS 0.1393
ExAC AFR 0.0880
ExAC AMR 0.2451
ExAC EAS 0.0602
ExAC FIN 0.0742
ExAC NFE 0.1285
ExAC OTH 0.11
1000 Genomes 0.120407