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: rs121908188
rs121908188
SELENON
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554888939
rs1554888939
EHMT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs199564797
rs199564797
SELENON
A 0.700 GeneticVariation CLINVAR

dbSNP: rs397517077
rs397517077
CBL
C 0.700 GeneticVariation CLINVAR

dbSNP: rs745886248
rs745886248
SELENON
A 0.700 GeneticVariation CLINVAR

dbSNP: rs80338758
rs80338758
MED12
T 0.700 CausalMutation CLINVAR

dbSNP: rs868064163
rs868064163
ACTL6A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
A 0.700 CausalMutation CLINVAR