Variant: chr5-37001010-A-C

INDEX-db frequencies

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: 224.00

Average Depth at the site in variant carriers: 140.00

dbSNP ID: rs530238141

ClinVar: chr5-37001010-A-C

UCSC Browser: chr5-37001010-A-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 0.0005
ExAC SAS 0.0026
ExAC AFR 9.854e-05
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0
ExAC NFE 4.548e-05
ExAC OTH 0.0089
1000 Genomes 0.000599042