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

2019

dbSNP: rs1562846694
rs1562846694
G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019

dbSNP: rs1563686762
rs1563686762
C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019

dbSNP: rs1114167445
rs1114167445
T 0.700 CausalMutation CLINVAR A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 28540413

2017

dbSNP: rs1555649483
rs1555649483
A 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017

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

2015

dbSNP: rs63750687
rs63750687
T 0.700 GeneticVariation CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961

2014

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

2012

dbSNP: rs121908557
rs121908557
T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008

dbSNP: rs121908557
rs121908557
T 0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004

dbSNP: rs1057518812
rs1057518812
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518879
rs1057518879
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518883
rs1057518883
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519443
rs1057519443
G 0.700 CausalMutation CLINVAR

dbSNP: rs1064797103
rs1064797103
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085308004
rs1085308004
G 0.700 CausalMutation CLINVAR

dbSNP: rs111854391
rs111854391
T 0.700 CausalMutation CLINVAR

dbSNP: rs112550005
rs112550005
A 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1178187217
rs1178187217
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121908188
rs121908188
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918494
rs121918494
C 0.700 GeneticVariation CLINVAR

dbSNP: rs12720458
rs12720458
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1352010373
rs1352010373
C 0.700 CausalMutation CLINVAR