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: rs121434341
rs121434341
CHD7
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
T 0.700 CausalMutation CLINVAR

dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
T 0.700 GeneticVariation CLINVAR

dbSNP: rs886041065
rs886041065
ASXL2
T 0.700 CausalMutation CLINVAR