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

2017

dbSNP: rs1114167423
rs1114167423
A 0.700 CausalMutation CLINVAR Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. 28652255

2017

dbSNP: rs1553630279
rs1553630279
T 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

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: rs752298579
rs752298579
A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016

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

2016

dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
G 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016

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

2016

dbSNP: rs1553630279
rs1553630279
T 0.700 CausalMutation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

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: rs1553630279
rs1553630279
T 0.700 CausalMutation CLINVAR [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 2614104

1989

dbSNP: rs1043679457
rs1043679457
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057518813
rs1057518813
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518936
rs1057518936
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1217391623
rs1217391623
T 0.700 CausalMutation CLINVAR

dbSNP: rs1345176461
rs1345176461
A 0.700 GeneticVariation CLINVAR

dbSNP: rs142110773
rs142110773
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553878395
rs1553878395
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555475794
rs1555475794
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555507479
rs1555507479
A 0.700 GeneticVariation CLINVAR