CEP152, centrosomal protein 152, 22995

N. diseases: 66; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10851469
rs10851469
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs10851470
rs10851470
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs12442299
rs12442299
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs12907144
rs12907144
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs12910178
rs12910178
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs1506523
rs1506523
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs1566816
rs1566816
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs182018947
rs182018947
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C3151187
Disease:
SECKEL SYNDROME 5 		C 0.700 CausalMutation CLINVAR CEP152 is a genome maintenance protein disrupted in Seckel syndrome. 21131973 2011
dbSNP: rs200879436
rs200879436
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C3151187
Disease:
SECKEL SYNDROME 5 		0.700 GeneticVariation UNIPROT CEP152 is a genome maintenance protein disrupted in Seckel syndrome. 21131973 2011
dbSNP: rs2043682
rs2043682
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs2045889
rs2045889
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs2045891
rs2045891
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs2126905
rs2126905
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs4775771
rs4775771
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs8038489
rs8038489
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs8038940
rs8038940
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs931782
rs931782
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0162872
Disease:
Aortic Aneurysm, Thoracic 		0.700 GeneticVariation GWASDB Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
dbSNP: rs16961610
rs16961610
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0037290
Disease:
Skin Pigmentation 		0.700 GeneticVariation GWASDB A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
dbSNP: rs784416
rs784416
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0037290
Disease:
Skin Pigmentation 		0.700 GeneticVariation GWASDB A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
dbSNP: rs1342429887
rs1342429887
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C0265202
Disease:
Seckel syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1349385657
rs1349385657
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C3151187
Disease:
SECKEL SYNDROME 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555418825
rs1555418825
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C3553886
Disease:
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567024512
rs1567024512
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C3553886
Disease:
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs182018947
rs182018947
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C3553886
Disease:
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267606717
rs267606717
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
CUI: C3553886
Disease:
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR