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: rs1135401744
rs1135401744
KYNU
T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017
dbSNP: rs1565706229
rs1565706229
EED ; MIR6755
C 0.700 GeneticVariation CLINVAR

dbSNP: rs746800707
rs746800707
AAR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
A 0.700 GeneticVariation CLINVAR