Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853250
rs878853250
SCN8A
C 0.700 CausalMutation CLINVAR

dbSNP: rs875989800
rs875989800
SMARCB1
G 0.700 CausalMutation CLINVAR

dbSNP: rs869312713
rs869312713
ANKRD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs868064163
rs868064163
ACTL6A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
A 0.700 GeneticVariation CLINVAR

dbSNP: rs797044849
rs797044849
GRIN2B
G 0.700 GeneticVariation CLINVAR

dbSNP: rs794727931
rs794727931
ALG8
C 0.700 CausalMutation CLINVAR

dbSNP: rs780533096
rs780533096
MIPEP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs771237928
rs771237928
NOTCH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs769234940
rs769234940
CHAT
T 0.700 CausalMutation CLINVAR

dbSNP: rs751093906
rs751093906
SLC20A2
A 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
A 0.700 CausalMutation CLINVAR

dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
T 0.700 CausalMutation CLINVAR

dbSNP: rs398122394
rs398122394
ALG13
G 0.700 CausalMutation CLINVAR

dbSNP: rs397515415
rs397515415
HDAC8
A 0.700 CausalMutation CLINVAR

dbSNP: rs387906702
rs387906702
SMC1A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs369160589
rs369160589
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
A 0.700 CausalMutation CLINVAR

dbSNP: rs201943194
rs201943194
DNAH11
T 0.700 CausalMutation CLINVAR

dbSNP: rs201439531
rs201439531
CHAT
G 0.700 CausalMutation CLINVAR

dbSNP: rs199469465
rs199469465
SRCAP
T 0.700 CausalMutation CLINVAR

dbSNP: rs1569548274
rs1569548274
MECP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1569324457
rs1569324457
ASXL1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567941252
rs1567941252
PCGF2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019