Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555817157
rs1555817157
A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850

2018

dbSNP: rs778361520
rs778361520
A 0.700 GeneticVariation CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236

2017

dbSNP: rs121918358
rs121918358
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016

dbSNP: rs141659620
rs141659620
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016

dbSNP: rs61755320
rs61755320
T 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016

dbSNP: rs72547551
rs72547551
T 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016

dbSNP: rs748309520
rs748309520
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016

dbSNP: rs752746786
rs752746786
G 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016

dbSNP: rs752989523
rs752989523
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016

dbSNP: rs869312824
rs869312824
G 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016

dbSNP: rs879253797
rs879253797
T 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016

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

2015

dbSNP: rs1064795104
rs1064795104
C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014

dbSNP: rs748787734
rs748787734
C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942

2014

dbSNP: rs1064795104
rs1064795104
C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013

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

2012

dbSNP: rs80338796
rs80338796
A 0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007

dbSNP: rs80338796
rs80338796
A 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007

dbSNP: rs1057518787
rs1057518787
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518802
rs1057518802
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518822
rs1057518822
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518836
rs1057518836
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518843
rs1057518843
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518963
rs1057518963
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
T 0.700 GeneticVariation CLINVAR