Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1348892740
rs1348892740
A 0.700 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885

2019

dbSNP: rs1554728529
rs1554728529
C 0.700 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885

2019

dbSNP: rs1554826746
rs1554826746
A 0.700 CausalMutation CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885

2019

dbSNP: rs1057519927
rs1057519927
G 0.700 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018

dbSNP: rs1064794957
rs1064794957
A 0.700 GeneticVariation CLINVAR A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID). 29180260

2018

dbSNP: rs1131692232
rs1131692232
C 0.700 CausalMutation CLINVAR Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276

2018

dbSNP: rs1304422857
rs1304422857
A 0.700 CausalMutation CLINVAR Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. 29160006

2018

dbSNP: rs1348467293
rs1348467293
A 0.700 CausalMutation CLINVAR Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. 29061346

2018

dbSNP: rs143745703
rs143745703
G 0.700 CausalMutation CLINVAR Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. 29061346

2018

dbSNP: rs147001633
rs147001633
T 0.700 CausalMutation CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848

2018

dbSNP: rs1554396271
rs1554396271
A 0.700 CausalMutation CLINVAR A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. 28916840

2018

dbSNP: rs1554396271
rs1554396271
A 0.700 CausalMutation CLINVAR Osteogenesis imperfecta - A clinical update. 28625337

2018

dbSNP: rs1554643463
rs1554643463
G 0.700 CausalMutation CLINVAR Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276

2018

dbSNP: rs1554643598
rs1554643598
G 0.700 CausalMutation CLINVAR Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276

2018

dbSNP: rs1554698878
rs1554698878
A 0.700 GeneticVariation CLINVAR Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. 28374925

2018

dbSNP: rs1555240361
rs1555240361
A 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018

dbSNP: rs1555240376
rs1555240376
T 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018

dbSNP: rs1555248020
rs1555248020
C 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018

dbSNP: rs1556105875
rs1556105875
T 0.700 CausalMutation CLINVAR A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate. 28140668

2018

dbSNP: rs199470477
rs199470477
A 0.700 CausalMutation CLINVAR A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. 29226580

2018

dbSNP: rs587777621
rs587777621
G 0.700 CausalMutation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018

dbSNP: rs672601370
rs672601370
A 0.700 CausalMutation CLINVAR Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. 28708278

2018

dbSNP: rs72658127
rs72658127
G 0.700 CausalMutation CLINVAR Osteogenesis imperfecta - A clinical update. 28625337

2018

dbSNP: rs72658127
rs72658127
G 0.700 CausalMutation CLINVAR A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. 28916840

2018

dbSNP: rs777218310
rs777218310
C 0.700 CausalMutation CLINVAR Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up. 28755360

2018