Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567368243
rs1567368243
GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019

dbSNP: rs779027563
rs779027563
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017

dbSNP: rs587777893
rs587777893
A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016

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

2015

dbSNP: rs180177035
rs180177035
C 0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006

dbSNP: rs180177035
rs180177035
C 0.700 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006

dbSNP: rs1057518879
rs1057518879
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060505041
rs1060505041
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692034
rs1131692034
EDA
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131692229
rs1131692229
C 0.700 CausalMutation CLINVAR

dbSNP: rs1135402759
rs1135402759
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1164484724
rs1164484724
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913355
rs121913355
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913375
rs121913375
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918455
rs121918455
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918460
rs121918460
G 0.700 CausalMutation CLINVAR

dbSNP: rs1276519904
rs1276519904
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1364709483
rs1364709483
A 0.700 CausalMutation CLINVAR

dbSNP: rs137852981
rs137852981
A 0.700 CausalMutation CLINVAR

dbSNP: rs1400419650
rs1400419650
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555386022
rs1555386022
A 0.700 CausalMutation CLINVAR

dbSNP: rs1559662068
rs1559662068
T 0.700 GeneticVariation CLINVAR

dbSNP: rs190521996
rs190521996
C 0.700 CausalMutation CLINVAR

dbSNP: rs199473457
rs199473457
T 0.700 CausalMutation CLINVAR