Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554333853
rs1554333853
CDK13
G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs1032242817
rs1032242817
DHCR7
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518934
rs1057518934
HERC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064796460
rs1064796460
TUBA1A
G 0.700 CausalMutation CLINVAR

dbSNP: rs12877501
rs12877501
COL4A2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs138659167
rs138659167
DHCR7
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555303073
rs1555303073
COL4A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs398124401
rs398124401
SRD5A3
A 0.700 CausalMutation CLINVAR

dbSNP: rs61750420
rs61750420
PEX1
T 0.700 CausalMutation CLINVAR

dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 CausalMutation CLINVAR

dbSNP: rs758022116
rs758022116
RALGAPB
T 0.700 GeneticVariation CLINVAR

dbSNP: rs778139192
rs778139192
TICRR ; KIF7
A 0.700 CausalMutation CLINVAR

dbSNP: rs869312878
rs869312878
AUTS2
AC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057523820
rs1057523820
CASK
0.010 GeneticVariation BEFREE The boy with ONH harbors a missense mutation (p.Pro673Leu) that destabilizes CASK and weakens the crucial CASK-neurexin interaction. 31425583

2019