Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567815105
rs1567815105
ADGRG1
GT 0.700 CausalMutation CLINVAR

dbSNP: rs148000791
rs148000791
AHI1
0.010 GeneticVariation BEFREE Therefore, we concluded that AHI1 c.3257A>G and NEB c.914 A>G were potential causal variants in this strabismus pedigree. 28391287

2017
dbSNP: rs387907144
rs387907144
ARID1B
T 0.700 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
dbSNP: rs387907144
rs387907144
ARID1B
T 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
dbSNP: rs1555743003
rs1555743003
ASXL3
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1057519429
rs1057519429
CACNA1A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555736565
rs1555736565
CACNA1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555745467
rs1555745467
CACNA1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553196101
rs1553196101
CDC42
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553196134
rs1553196134
CDC42
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519436
rs1057519436
DHX30
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060499733
rs1060499733
DHX30
G 0.700 CausalMutation CLINVAR

dbSNP: rs730882203
rs730882203
DMBX1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064796765
rs1064796765
DYNC1H1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1554888939
rs1554888939
EHMT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1564919048
rs1564919048
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
0.010 GeneticVariation BEFREE Overall, S252W and P253R groups showed significantly different numbers of patients with strabismus requiring surgery (p = 0.039), superior rectus muscle underaction (p = 0.024), nasolacrimal duct obstruction (p = 0.0002), and astigmatism (p = 0.005). 17189145

2006
dbSNP: rs79184941
rs79184941
FGFR2
0.010 GeneticVariation BEFREE Compared with patients with the P253R mutation, Apert syndrome patients with the S252W mutation may have more severe ocular phenotypes with a higher likelihood of developing strabismus, especially vertical deviation. 17189145

2006
dbSNP: rs267606826
rs267606826
FOXG1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518926
rs1057518926
FOXP1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518843
rs1057518843
GALC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs377274761
rs377274761
GALC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs864309488
rs864309488
GMNN
G 0.700 GeneticVariation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015