RAB11B, RAB11B, member RAS oncogene family, 9230

N. diseases: 55; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2967605
rs2967605
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
CUI: C0392885
Disease:
High density lipoprotein measurement 		C 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1555690779
rs1555690779
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
CUI: C4540498
Disease:
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER 		0.800 GeneticVariation UNIPROT Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. 29106825 2017
dbSNP: rs1555690779
rs1555690779
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
CUI: C4540498
Disease:
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER 		A 0.800 GeneticVariation CLINVAR Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. 29106825 2017
dbSNP: rs1555690804
rs1555690804
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
CUI: C4540498
Disease:
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER 		A 0.800 GeneticVariation CLINVAR Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. 29106825 2017
dbSNP: rs1555690804
rs1555690804
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
CUI: C4540498
Disease:
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER 		0.800 GeneticVariation UNIPROT Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. 29106825 2017
dbSNP: rs2967605
rs2967605
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASDB Common variants at 30 loci contribute to polygenic dyslipidemia. 19060906 2009
dbSNP: rs2967605
rs2967605
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT Common variants at 30 loci contribute to polygenic dyslipidemia. 19060906 2009
dbSNP: rs1555690779
rs1555690779
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
CUI: C4540498
Disease:
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1555690804
rs1555690804
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
CUI: C4540498
Disease:
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER 		A 0.800 CausalMutation CLINVAR
dbSNP: rs2241588
rs2241588
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs149183129
rs149183129
Entrez Id: 9230;100507567
Gene Symbol: RAB11B;RAB11B-AS1
RAB11B;RAB11B-AS1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		CT 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2967605
rs2967605
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
CUI: C0010068
Disease:
Coronary heart disease 		0.700 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
dbSNP: rs2967605
rs2967605
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		T 0.700 GeneticVariation GWASDB Common variants at 30 loci contribute to polygenic dyslipidemia. 19060906 2009
dbSNP: rs2967605
rs2967605
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
CUI: C1956346
Disease:
Coronary Artery Disease 		0.010 GeneticVariation BEFREE The rs2967605 CT/TT genotypes were associated with a decreased risk of CAD (adjusted OR = 0.68, 95% CI = 0.47-0.99, <i>P</i> = 0.043 for CT/TT <i>vs</i>. 30323852 2018