Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555743003
rs1555743003
ASXL3
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
C 0.700 CausalMutation CLINVAR