ASPM, abnormal spindle microtubule assembly, 259266

N. diseases: 159; N. variants: 165
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1189399471
rs1189399471
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483 2013
dbSNP: rs12034362
rs12034362
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs12042442
rs12042442
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs12085377
rs12085377
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs12138336
rs12138336
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs1332660
rs1332660
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs1553227742
rs1553227742
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483 2013
dbSNP: rs1553227742
rs1553227742
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483 2013
dbSNP: rs1553326645
rs1553326645
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483 2013
dbSNP: rs1553326645
rs1553326645
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483 2013
dbSNP: rs3737110
rs3737110
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs3762271
rs3762271
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs4915344
rs4915344
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs587783211
rs587783211
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483 2013
dbSNP: rs587783211
rs587783211
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483 2013
dbSNP: rs6700180
rs6700180
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs765530357
rs765530357
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483 2013
dbSNP: rs765530357
rs765530357
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483 2013
dbSNP: rs955927
rs955927
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs1189399471
rs1189399471
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 20978018 2010
dbSNP: rs1189399471
rs1189399471
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 20978018 2010
dbSNP: rs1553227742
rs1553227742
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 20978018 2010
dbSNP: rs1553227742
rs1553227742
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 20978018 2010
dbSNP: rs1553326645
rs1553326645
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 20978018 2010
dbSNP: rs1553326645
rs1553326645
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. 20978018 2010