Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557043622
rs1557043622
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019

dbSNP: rs1563686762
rs1563686762
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

dbSNP: rs1057519565
rs1057519565
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
T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017

dbSNP: rs1057524157
rs1057524157
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: rs1114167445
rs1114167445
T 0.700 CausalMutation CLINVAR A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 28540413

2017

dbSNP: rs151344517
rs151344517
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
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518345
rs1057518345
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518914
rs1057518914
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060505041
rs1060505041
T 0.700 CausalMutation CLINVAR

dbSNP: rs114925667
rs114925667
A 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1178187217
rs1178187217
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121434341
rs121434341
T 0.700 CausalMutation CLINVAR

dbSNP: rs1276519904
rs1276519904
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1344172059
rs1344172059
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1352010373
rs1352010373
C 0.700 CausalMutation CLINVAR

dbSNP: rs140119177
rs140119177
A 0.700 GeneticVariation CLINVAR

dbSNP: rs141322087
rs141322087
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553770577
rs1553770577
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553920379
rs1553920379
AAAGT 0.700 CausalMutation CLINVAR

dbSNP: rs1554208945
rs1554208945
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554504663
rs1554504663
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554781700
rs1554781700
T 0.700 GeneticVariation CLINVAR