Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879253779
rs879253779
TSEN15
0.800 GeneticVariation UNIPROT Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. 27392077

2016
dbSNP: rs879253779
rs879253779
TSEN15
0.800 GeneticVariation UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065

2015
dbSNP: rs879253779
rs879253779
TSEN15
G 0.800 CausalMutation CLINVAR