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: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
T 0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928

2010
dbSNP: rs1009298200
rs1009298200
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs137854889
rs137854889
ZMPSTE24
GT 0.700 CausalMutation CLINVAR

dbSNP: rs1400419650
rs1400419650
TRIP11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555386022
rs1555386022
TRIP11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555452127
rs1555452127
ALG1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555575860
rs1555575860
COG4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1559931177
rs1559931177
QRICH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1569355102
rs1569355102
DYRK1A
T 0.700 CausalMutation CLINVAR

dbSNP: rs369160589
rs369160589
ALG1
G 0.700 GeneticVariation CLINVAR

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

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