INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 36 19 17 36
Allele Number 350 202 148 350
Allele Frequency 0.10286 0.09406 0.11486 0.10286
Number of Homozygotes 1 0 1 1

Gene: NIPBL

Region: exonic

Annotation: synonymous_SNV

Consequence: ['c.C5874T', 'p.S1958S']

Average Genotype Quality in variant carriers: 81.54

Average Depth at the site in variant carriers: 48.43

dbSNP ID: rs61748200

ClinVar: chr5-37036492-C-T

UCSC Browser: chr5-37036492-C-T

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 0.2284
ExAC SAS 0.2574
ExAC AFR 0.0740
ExAC AMR 0.2456
ExAC EAS 0.4095
ExAC FIN 0.2934
ExAC NFE 0.2178
ExAC OTH 0.2110
1000 Genomes 0.171526