Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064795104
rs1064795104
EXOC6B
C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014
dbSNP: rs1064795104
rs1064795104
EXOC6B
C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013
dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918494
rs121918494
FGFR2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs137854461
rs137854461
FBN1
C 0.700 CausalMutation CLINVAR

dbSNP: rs137854466
rs137854466
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554442015
rs1554442015
TWIST1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1563005360
rs1563005360
FLNC ; FLNC-AS1
GAGG 0.700 CausalMutation CLINVAR

dbSNP: rs397515804
rs397515804
FBN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs587776917
rs587776917
ECEL1
GT 0.700 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
A 0.700 CausalMutation CLINVAR