Source: ALL
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: rs1563183492
rs1563183492
AUTS2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs367557471
rs367557471
CHD7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs875989800
rs875989800
SMARCB1
G 0.700 CausalMutation CLINVAR