Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777893
rs587777893
MTOR
A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
dbSNP: rs119103263
rs119103263
MFN2
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912855
rs121912855
COL7A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553769428
rs1553769428
HJV
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555462347
rs1555462347
USP7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1569355102
rs1569355102
DYRK1A
T 0.700 CausalMutation CLINVAR

dbSNP: rs397514698
rs397514698
GNAQ
T 0.700 CausalMutation CLINVAR

dbSNP: rs398124401
rs398124401
SRD5A3
A 0.700 CausalMutation CLINVAR

dbSNP: rs879255280
rs879255280
SMO
T 0.700 CausalMutation CLINVAR

dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
C 0.700 CausalMutation CLINVAR