Variant: chr5-36985303-A-G

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 20 13 7 20
Allele Number 350 202 148 350
Allele Frequency 0.05714 0.06436 0.04730 0.05714
Number of Homozygotes 0 0 0 0

Gene: NIPBL

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.A2021G', 'p.N674S']

Average Genotype Quality in variant carriers: 100.40

Average Depth at the site in variant carriers: 54.40

dbSNP ID: rs3822471

ClinVar: chr5-36985303-A-G

UCSC Browser: chr5-36985303-A-G

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.181 T
Polyphen2 HDIV 0.0 B
Polyphen2 HVAR 0.001 B
Mutation Taster 0.592 P
Mutation Assessor 0.695 N
LRT 0.000 N
FATHMM -3.27 D
CADD Phred 0.057 .
CADD Raw -0.743 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.1322
ExAC SAS 0.1127
ExAC AFR 0.0937
ExAC AMR 0.2371
ExAC EAS 0.1301
ExAC FIN 0.1380
ExAC NFE 0.1244
ExAC OTH 0.1521
1000 Genomes 0.1252