Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1558005340
rs1558005340
G 0.700 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020

dbSNP: rs1558008455
rs1558008455
A 0.700 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020

dbSNP: rs1210404526
rs1210404526
T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018

dbSNP: rs1555162325
rs1555162325
A 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018

dbSNP: rs1555411378
rs1555411378
T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018

dbSNP: rs1555625363
rs1555625363
T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018

dbSNP: rs1556405129
rs1556405129
DCX
T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018

dbSNP: rs1557175424
rs1557175424
T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018

dbSNP: rs745997770
rs745997770
A 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018

dbSNP: rs765275884
rs765275884
C 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018

dbSNP: rs587777893
rs587777893
A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016

dbSNP: rs864309676
rs864309676
G 0.700 GeneticVariation CLINVAR Mosaic parental germline mutations causing recurrent forms of malformations of cortical development. 26395554

2016

dbSNP: rs104894780
rs104894780
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894782
rs104894782
DCX
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894784
rs104894784
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894785
rs104894785
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs122457137
rs122457137
DCX
T 0.700 CausalMutation CLINVAR

dbSNP: rs1559193213
rs1559193213
TG 0.700 CausalMutation CLINVAR

dbSNP: rs201870761
rs201870761
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs267606317
rs267606317
DCX
T 0.700 CausalMutation CLINVAR

dbSNP: rs56030372
rs56030372
DCX
T 0.700 CausalMutation CLINVAR

dbSNP: rs587783518
rs587783518
DCX
C 0.700 CausalMutation CLINVAR

dbSNP: rs587783519
rs587783519
DCX
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783520
rs587783520
DCX
G 0.700 CausalMutation CLINVAR

dbSNP: rs587783521
rs587783521
DCX
G 0.700 CausalMutation CLINVAR