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: rs1276519904
rs1276519904
H3-3A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs137854889
rs137854889
ZMPSTE24
GT 0.700 CausalMutation CLINVAR

dbSNP: rs1554122802
rs1554122802
FBN2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
G 0.700 CausalMutation CLINVAR

dbSNP: rs879255273
rs879255273
CCN6
A 0.700 CausalMutation CLINVAR

dbSNP: rs886037856
rs886037856
BHLHA9
TT 0.700 GeneticVariation CLINVAR