Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
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: rs1554699491
rs1554699491
AGTPBP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566823361
rs1566823361
FGF14
TG 0.700 GeneticVariation CLINVAR

dbSNP: rs587784105
rs587784105
NSD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs780631499
rs780631499
AGTPBP1
C 0.700 CausalMutation CLINVAR