Variant: chr5-37019401-T-C

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 3 3 0 3
Allele Number 350 202 148 350
Allele Frequency 0.00857 0.01485 0.00000 0.00857
Number of Homozygotes 0 0 0 0

Gene: NIPBL

Region: intronic

Annotation: None

Consequence: None

Average Genotype Quality in variant carriers: 55.00

Average Depth at the site in variant carriers: 31.00

dbSNP ID: rs540078271

ClinVar: chr5-37019401-T-C

UCSC Browser: chr5-37019401-T-C

Browse the variant in INDEX-db genome browser


In silico functional predictions

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 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.0016
ExAC SAS 0.0118
ExAC AFR 0
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0
ExAC NFE 0
ExAC OTH 0.0011
1000 Genomes 0.00319489