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: rs145489194
rs145489194
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
A 0.710 CausalMutation CLINVAR
dbSNP: rs1057520873
rs1057520873
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057520873
rs1057520873
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs1060499757
rs1060499757
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C4551563
Disease:
Microcephaly (physical finding)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060499758
rs1060499758
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C4551563
Disease:
Microcephaly (physical finding)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1321892596
rs1321892596
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
G 0.700 CausalMutation CLINVAR
dbSNP: rs1334301723
rs1334301723
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1334947797
rs1334947797
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs137852994
rs137852994
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
A 0.700 CausalMutation CLINVAR
dbSNP: rs137852994
rs137852994
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs137852995
rs137852995
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
T 0.700 CausalMutation CLINVAR
dbSNP: rs137852995
rs137852995
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
T 0.700 CausalMutation CLINVAR
dbSNP: rs137852996
rs137852996
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
A 0.700 CausalMutation CLINVAR
dbSNP: rs137852996
rs137852996
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs137852997
rs137852997
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
C 0.700 CausalMutation CLINVAR
dbSNP: rs137852997
rs137852997
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
C 0.700 CausalMutation CLINVAR
dbSNP: rs1404276011
rs1404276011
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
T 0.700 CausalMutation CLINVAR
dbSNP: rs140602858
rs140602858
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
A 0.700 CausalMutation CLINVAR
dbSNP: rs140602858
rs140602858
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs143931757
rs143931757
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
C 0.700 CausalMutation CLINVAR
dbSNP: rs145489194
rs145489194
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
A 0.700 CausalMutation CLINVAR
dbSNP: rs148294838
rs148294838
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly
T 0.700 CausalMutation CLINVAR
dbSNP: rs1553225179
rs1553225179
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
AT 0.700 CausalMutation CLINVAR
dbSNP: rs1553227021
rs1553227021
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
T 0.700 CausalMutation CLINVAR
dbSNP: rs1553227645
rs1553227645
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5
C 0.700 CausalMutation CLINVAR