Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776679653
rs776679653
ISCA1
T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563

2017
dbSNP: rs1043679457
rs1043679457
ERCC8
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553510492
rs1553510492
TBR1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555321402
rs1555321402
FOXG1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1564062144
rs1564062144
HNRNPK
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
A 0.700 CausalMutation CLINVAR

dbSNP: rs74315442
rs74315442
CSTB
A 0.700 CausalMutation CLINVAR

dbSNP: rs869312662
rs869312662
ARX
TGGTACA 0.700 CausalMutation CLINVAR