Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1562846694
rs1562846694
TFR2 ; ACTL6B
G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019
dbSNP: rs876661308
rs876661308
MEF2C
A 0.700 CausalMutation CLINVAR MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. 27255693

2016
dbSNP: rs1057518787
rs1057518787
GPR143
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1556425596
rs1556425596
COL6A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1566658823
rs1566658823
GCH1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
TG 0.700 CausalMutation CLINVAR