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: rs1553228275
rs1553228275
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
G 0.700 CausalMutation CLINVAR
dbSNP: rs1557966012
rs1557966012
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C4021085
Disease:
Abnormality of brain morphology
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1557966012
rs1557966012
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
T 0.700 GeneticVariation CLINVAR
dbSNP: rs189678019
rs189678019
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
C 0.700 CausalMutation CLINVAR
dbSNP: rs189678019
rs189678019
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
C 0.700 CausalMutation CLINVAR
dbSNP: rs193251130
rs193251130
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
G 0.700 CausalMutation CLINVAR
dbSNP: rs199422131
rs199422131
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
G 0.700 CausalMutation CLINVAR
dbSNP: rs199422133
rs199422133
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
C 0.700 CausalMutation CLINVAR
dbSNP: rs199422134
rs199422134
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
A 0.700 GeneticVariation CLINVAR
dbSNP: rs199422134
rs199422134
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
A 0.700 CausalMutation CLINVAR
dbSNP: rs199422135
rs199422135
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
C 0.700 CausalMutation CLINVAR
dbSNP: rs199422135
rs199422135
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
C 0.700 CausalMutation CLINVAR
dbSNP: rs199422136
rs199422136
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
C 0.700 CausalMutation CLINVAR
dbSNP: rs199422137
rs199422137
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
A 0.700 CausalMutation CLINVAR
dbSNP: rs199422137
rs199422137
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs199422138
rs199422138
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
T 0.700 CausalMutation CLINVAR
dbSNP: rs199422139
rs199422139
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
G 0.700 CausalMutation CLINVAR
dbSNP: rs199422139
rs199422139
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
G 0.700 CausalMutation CLINVAR
dbSNP: rs199422141
rs199422141
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
A 0.700 CausalMutation CLINVAR
dbSNP: rs199422142
rs199422142
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
A 0.700 CausalMutation CLINVAR
dbSNP: rs199422143
rs199422143
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
C 0.700 CausalMutation CLINVAR
dbSNP: rs199422144
rs199422144
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
G 0.700 CausalMutation CLINVAR
dbSNP: rs199422146
rs199422146
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C4551563
Disease:
Microcephaly (physical finding)
G 0.700 GeneticVariation CLINVAR
dbSNP: rs199422146
rs199422146
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
G 0.700 CausalMutation CLINVAR
dbSNP: rs199422147
rs199422147
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
T 0.700 CausalMutation CLINVAR