Variant: chr5-37045841-A-G

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 56 35 21 56
Allele Number 350 202 148 350
Allele Frequency 0.16000 0.17327 0.14189 0.16000
Number of Homozygotes 24 14 10 24

Gene: NIPBL

Region: intronic

Annotation: None

Consequence: None

Average Genotype Quality in variant carriers: 65.09

Average Depth at the site in variant carriers: 16.28

dbSNP ID: rs301859

ClinVar: chr5-37045841-A-G

UCSC Browser: chr5-37045841-A-G

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 None
ExAC SAS None
ExAC AFR None
ExAC AMR None
ExAC EAS None
ExAC FIN None
ExAC NFE None
ExAC OTH None
1000 Genomes 0.621006