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: rs1554208945
rs1554208945
ZNF292
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555525115
rs1555525115
ANKRD11
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555968941
rs1555968941
CACNA1C
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
A 0.700 CausalMutation CLINVAR

dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs771379232
rs771379232
MTHFS ; ST20-MTHFS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs797046101
rs797046101
WDR45
0.010 GeneticVariation BEFREE Whole-exome sequencing revealed a de novo, heterozygous deleterious mutation c.400C>T (p.R13X) in WDR45, previously reported to be disease-causing and associated with early childhood global developmental delay and seizures other than epileptic spasms. 26609730

2015
dbSNP: rs397507475
rs397507475
BRAF
0.010 GeneticVariation BEFREE A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. 20395089

2011