Gene: ASPM ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553227742
rs1553227742
ASPM
C 0.700 CausalMutation CLINVAR Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. 18452193

2008
dbSNP: rs1553326645
rs1553326645
ASPM
G 0.700 GeneticVariation CLINVAR Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. 18452193

2008
dbSNP: rs587783211
rs587783211
ASPM
A 0.700 CausalMutation CLINVAR Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. 18452193

2008
dbSNP: rs1189399471
rs1189399471
ASPM
C 0.700 CausalMutation CLINVAR Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 15806441

2005
dbSNP: rs1189399471
rs1189399471
ASPM
C 0.700 CausalMutation CLINVAR ASPM mutations identified in patients with primary microcephaly and seizures. 16141009

2005
dbSNP: rs1553227742
rs1553227742
ASPM
C 0.700 CausalMutation CLINVAR ASPM mutations identified in patients with primary microcephaly and seizures. 16141009

2005
dbSNP: rs1553227742
rs1553227742
ASPM
C 0.700 CausalMutation CLINVAR Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 15806441

2005
dbSNP: rs1553326645
rs1553326645
ASPM
G 0.700 GeneticVariation CLINVAR ASPM mutations identified in patients with primary microcephaly and seizures. 16141009

2005
dbSNP: rs1553326645
rs1553326645
ASPM
G 0.700 GeneticVariation CLINVAR Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 15806441

2005
dbSNP: rs587783211
rs587783211
ASPM
A 0.700 CausalMutation CLINVAR Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. 15806441

2005
dbSNP: rs587783211
rs587783211
ASPM
A 0.700 CausalMutation CLINVAR ASPM mutations identified in patients with primary microcephaly and seizures. 16141009

2005
dbSNP: rs1189399471
rs1189399471
ASPM
C 0.700 CausalMutation CLINVAR ASPM is a major determinant of cerebral cortical size. 12355089

2002
dbSNP: rs1553227742
rs1553227742
ASPM
C 0.700 CausalMutation CLINVAR ASPM is a major determinant of cerebral cortical size. 12355089

2002
dbSNP: rs1553326645
rs1553326645
ASPM
G 0.700 GeneticVariation CLINVAR ASPM is a major determinant of cerebral cortical size. 12355089

2002
dbSNP: rs587783211
rs587783211
ASPM
A 0.700 CausalMutation CLINVAR ASPM is a major determinant of cerebral cortical size. 12355089

2002