Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1344172059
rs1344172059
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs141322087
rs141322087
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs868064163
rs868064163
ACTL6A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
C 0.700 CausalMutation CLINVAR

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: rs1555452127
rs1555452127
ALG1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs369160589
rs369160589
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs398122394
rs398122394
ALG13
G 0.700 CausalMutation CLINVAR

dbSNP: rs794727931
rs794727931
ALG8
C 0.700 CausalMutation CLINVAR

dbSNP: rs869312713
rs869312713
ANKRD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1569324457
rs1569324457
ASXL1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1563183492
rs1563183492
AUTS2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs201439531
rs201439531
CHAT
G 0.700 CausalMutation CLINVAR

dbSNP: rs769234940
rs769234940
CHAT
T 0.700 CausalMutation CLINVAR

dbSNP: rs121434341
rs121434341
CHD7
T 0.700 CausalMutation CLINVAR

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

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

dbSNP: rs1554781700
rs1554781700
COL5A1
T 0.700 GeneticVariation CLINVAR

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: rs1057524157
rs1057524157
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: rs1057524157
rs1057524157
DEAF1
T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
dbSNP: rs1178187217
rs1178187217
DNAH11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs201943194
rs201943194
DNAH11
T 0.700 CausalMutation CLINVAR

dbSNP: rs140119177
rs140119177
FAM120AOS
A 0.700 GeneticVariation CLINVAR