Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434305
rs121434305
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs1488084787
rs1488084787
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs1554471681
rs1554471681
Entrez Id: 79648;100287015
Gene Symbol: MCPH1;LOC100287015
MCPH1;LOC100287015
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs1554496609
rs1554496609
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
GAC 0.700 CausalMutation CLINVAR
dbSNP: rs199422125
rs199422125
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
CA 0.700 CausalMutation CLINVAR
dbSNP: rs201599657
rs201599657
Entrez Id: 285;79648
Gene Symbol: ANGPT2;MCPH1
ANGPT2;MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs387906961
rs387906961
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs541042265
rs541042265
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
G 0.700 GeneticVariation CLINVAR
dbSNP: rs587783733
rs587783733
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
C 0.700 GeneticVariation CLINVAR
dbSNP: rs587783735
rs587783735
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs587783739
rs587783739
Entrez Id: 79648;100507530
Gene Symbol: MCPH1;MCPH1-AS1
MCPH1;MCPH1-AS1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs587783741
rs587783741
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
A 0.700 GeneticVariation CLINVAR
dbSNP: rs748011724
rs748011724
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs753597039
rs753597039
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
GA 0.700 CausalMutation CLINVAR
dbSNP: rs755862917
rs755862917
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
G 0.700 CausalMutation CLINVAR