Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519565
rs1057519565
DEAF1
T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555483699
rs1555483699
GRIN2A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1565706229
rs1565706229
EED ; MIR6755
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569301036
rs1569301036
TAF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs786204849
rs786204849
FIBP
A 0.700 GeneticVariation CLINVAR