Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499548
rs1060499548
ABL1
A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
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: rs587777736
rs587777736
NOTCH1
G 0.700 GeneticVariation CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448

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: rs1064795559
rs1064795559
MORC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918467
rs121918467
PTPN11
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1560755661
rs1560755661
TBCK
A 0.700 CausalMutation CLINVAR

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