Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs479777
rs479777
Entrez Id: 283234;102723878
Gene Symbol: CCDC88B;LOC102723878
CCDC88B;LOC102723878
CUI: C0036202
Disease:
Sarcoidosis 		0.810 GeneticVariation GWASDB A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1. 22837380 2012
dbSNP: rs479777
rs479777
Entrez Id: 283234;102723878
Gene Symbol: CCDC88B;LOC102723878
CCDC88B;LOC102723878
CUI: C0036202
Disease:
Sarcoidosis 		0.810 GeneticVariation BEFREE We identified chromosome 11q13.1 (rs479777) as a novel locus influencing susceptibility to sarcoidosis with genome-wide significance. 22837380 2012
dbSNP: rs479777
rs479777
Entrez Id: 283234;102723878
Gene Symbol: CCDC88B;LOC102723878
CCDC88B;LOC102723878
CUI: C0036202
Disease:
Sarcoidosis 		0.810 GeneticVariation GWASCAT A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1. 22837380 2012
dbSNP: rs11231757
rs11231757
Entrez Id: 283234;102723878
Gene Symbol: CCDC88B;LOC102723878
CCDC88B;LOC102723878
CUI: C0020676
Disease:
Hypothyroidism 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1199047
rs1199047
Entrez Id: 283234
Gene Symbol: CCDC88B
CCDC88B
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1199047
rs1199047
Entrez Id: 283234
Gene Symbol: CCDC88B
CCDC88B
CUI: C4014795
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1199047
rs1199047
Entrez Id: 283234
Gene Symbol: CCDC88B
CCDC88B
CUI: C4310768
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1199047
rs1199047
Entrez Id: 283234
Gene Symbol: CCDC88B
CCDC88B
CUI: C0004364
Disease:
Autoimmune Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs61886887
rs61886887
Entrez Id: 283234
Gene Symbol: CCDC88B
CCDC88B
CUI: C0013595
Disease:
Eczema 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs663743
rs663743
Entrez Id: 283234;102723878
Gene Symbol: CCDC88B;LOC102723878
CCDC88B;LOC102723878
CUI: C0751676
Disease:
Basal Cell Cancer 		A 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs663743
rs663743
Entrez Id: 283234;102723878
Gene Symbol: CCDC88B;LOC102723878
CCDC88B;LOC102723878
CUI: C0007117
Disease:
Basal cell carcinoma 		A 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs663743
rs663743
Entrez Id: 283234;102723878
Gene Symbol: CCDC88B;LOC102723878
CCDC88B;LOC102723878
CUI: C0206710
Disease:
Basal Cell Neoplasm 		A 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs663743
rs663743
Entrez Id: 283234;102723878
Gene Symbol: CCDC88B;LOC102723878
CCDC88B;LOC102723878
CUI: C0008313
Disease:
Cholangitis, Sclerosing 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. 27992413 2017
dbSNP: rs510372
rs510372
Entrez Id: 283234
Gene Symbol: CCDC88B
CCDC88B
CUI: C0008312
Disease:
Primary biliary cirrhosis 		C 0.700 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269 2015
dbSNP: rs663743
rs663743
Entrez Id: 283234;102723878
Gene Symbol: CCDC88B;LOC102723878
CCDC88B;LOC102723878
CUI: C0023343
Disease:
Leprosy 		A 0.700 GeneticVariation GWASCAT Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy. 25642632 2015