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

2019
dbSNP: rs779027563
rs779027563
CNTNAP1
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
dbSNP: rs748787734
rs748787734
TUBB4A
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: rs1057519444
rs1057519444
SYN3
AA 0.700 CausalMutation CLINVAR

dbSNP: rs1057524820
rs1057524820
SCN8A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs139632595
rs139632595
EXOSC9
C 0.700 CausalMutation CLINVAR