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

2019
dbSNP: rs1057521721
rs1057521721
GRIA3
A 0.700 GeneticVariation CLINVAR A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability. 29016847

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: rs1135401778
rs1135401778
BPTF
C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
A 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554944271
rs1554944271
DEAF1
G 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: rs1555743003
rs1555743003
ASXL3
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555883505
rs1555883505
EEF1A2
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs1057521223
rs1057521223
SCN2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057524820
rs1057524820
SCN8A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499733
rs1060499733
DHX30
G 0.700 CausalMutation CLINVAR

dbSNP: rs1064793575
rs1064793575
SLC9A6
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307845
rs1085307845
PHIP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692231
rs1131692231
CYFIP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1380822792
rs1380822792
NAA15
A 0.700 CausalMutation CLINVAR

dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
A 0.700 GeneticVariation CLINVAR

dbSNP: rs146539065
rs146539065
SEPSECS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs148881970
rs148881970
NAGLU
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554888939
rs1554888939
EHMT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555358382
rs1555358382
GCH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555462347
rs1555462347
USP7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555939456
rs1555939456
RPS6KA3
C 0.700 GeneticVariation CLINVAR