Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1334099693
rs1334099693
SOX4
A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772

2019
dbSNP: rs1057516044
rs1057516044
ABCC9
G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1131691804
rs1131691804
FBN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553212868
rs1553212868
POGZ
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555528356
rs1555528356
ANKRD11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1558373252
rs1558373252
SOX11 ; LINC01248
G 0.700 GeneticVariation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
T 0.700 CausalMutation CLINVAR

dbSNP: rs397507481
rs397507481
BRAF
C 0.700 CausalMutation CLINVAR

dbSNP: rs794727774
rs794727774
FUCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs796052505
rs796052505
GABRG2
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338945
rs80338945
GJB2
G 0.700 CausalMutation CLINVAR