Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779027563
rs779027563
CNTNAP1
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
dbSNP: rs1555743003
rs1555743003
ASXL3
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1057518791
rs1057518791
TRPS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692034
rs1131692034
EDA
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918467
rs121918467
PTPN11
T 0.700 CausalMutation CLINVAR

dbSNP: rs180177035
rs180177035
BRAF
C 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
FGFR3
G 0.700 CausalMutation CLINVAR