Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135401734
rs1135401734
HNRNPU ; SNORA100
C 0.700 CausalMutation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017