Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908250
rs121908250
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.800 GeneticVariation UNIPROT Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 19911200 2010
dbSNP: rs121908251
rs121908251
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.800 GeneticVariation UNIPROT Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 19911200 2010
dbSNP: rs121908252
rs121908252
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.800 GeneticVariation UNIPROT Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 19911200 2010
dbSNP: rs121908254
rs121908254
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.800 GeneticVariation UNIPROT Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 19911200 2010
dbSNP: rs121908250
rs121908250
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
dbSNP: rs121908251
rs121908251
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
dbSNP: rs121908252
rs121908252
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
dbSNP: rs121908254
rs121908254
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
dbSNP: rs121908250
rs121908250
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908251
rs121908251
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908252
rs121908252
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908254
rs121908254
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs72966926
rs72966926
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs949214
rs949214
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C1836230
Disease:
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		C 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs949214
rs949214
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C1836233
Disease:
AIDS, PROGRESSION TO 		C 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs949214
rs949214
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C1836232
Disease:
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		C 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs949214
rs949214
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C0376705
Disease:
Viral Load result 		C 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs949214
rs949214
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C1836231
Disease:
HIV-1, RESISTANCE TO 		C 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs121908253
rs121908253
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.700 GeneticVariation UNIPROT Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. 19911200 2010
dbSNP: rs121908253
rs121908253
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		0.700 GeneticVariation UNIPROT Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
dbSNP: rs563023244
rs563023244
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C4012050
Disease:
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		GA 0.700 CausalMutation CLINVAR