Variant: chr5-37059093-G-A

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: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.G7511A', 'p.R2504Q']

Average Genotype Quality in variant carriers: 33.00

Average Depth at the site in variant carriers: 31.00

dbSNP ID: rs578001374

ClinVar: chr5-37059093-G-A

UCSC Browser: chr5-37059093-G-A

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.485 T
Polyphen2 HDIV 0.918 P
Polyphen2 HVAR 0.275 B
Mutation Taster 0.998 D
Mutation Assessor 1.1 L
LRT 0.000 D
FATHMM -1.25 T
CADD Phred 23.5 .
CADD Raw 3.877 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 8.238e-06
ExAC SAS 6.056e-05
ExAC AFR 0
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0
ExAC NFE 0
ExAC OTH 0
1000 Genomes 0.000399361