Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150109621
rs150109621
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C0018801
Disease:
Heart failure
0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
dbSNP: rs150109621
rs150109621
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C0018810
Disease:
heart rate
0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
dbSNP: rs150109621
rs150109621
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C4022792
Disease:
Reduced ejection fraction
0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
dbSNP: rs150381023
rs150381023
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C0018810
Disease:
heart rate
0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
dbSNP: rs150381023
rs150381023
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C4022792
Disease:
Reduced ejection fraction
0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
dbSNP: rs150381023
rs150381023
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C0018801
Disease:
Heart failure
0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
dbSNP: rs535263906
rs535263906
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C0018801
Disease:
Heart failure
0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
dbSNP: rs535263906
rs535263906
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C4022792
Disease:
Reduced ejection fraction
0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
dbSNP: rs535263906
rs535263906
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C0018810
Disease:
heart rate
0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495 2019
dbSNP: rs71313049
rs71313049
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation GWASCAT Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes. 28736931 2018
dbSNP: rs6008813
rs6008813
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
A 0.700 GeneticVariation GWASDB A genome-wide association study of prostate cancer in West African men. 24185611 2014
dbSNP: rs12170597
rs12170597
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700 GeneticVariation UNIPROT Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 22095531 2012
dbSNP: rs199688538
rs199688538
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700 GeneticVariation UNIPROT Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 22095531 2012
dbSNP: rs61741871
rs61741871
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700 GeneticVariation UNIPROT Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 22095531 2012
dbSNP: rs1569124017
rs1569124017
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C1704423
Disease:
Milroy Disease
T 0.700 CausalMutation CLINVAR
dbSNP: rs1569133268
rs1569133268
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C1704423
Disease:
Milroy Disease
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1569141899
rs1569141899
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C1704423
Disease:
Milroy Disease
T 0.700 CausalMutation CLINVAR
dbSNP: rs1569226110
rs1569226110
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C1704423
Disease:
Milroy Disease
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1569227576
rs1569227576
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C1704423
Disease:
Milroy Disease
A 0.700 GeneticVariation CLINVAR
dbSNP: rs6008777
rs6008777
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700 GeneticVariation UNIPROT
dbSNP: rs786201015
rs786201015
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
TCA 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs786201016
rs786201016
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C3891448
Disease:
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
C 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs4044210
rs4044210
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C0948008
Disease:
Ischemic stroke
0.030 GeneticVariation BEFREE In addition, a significant association was observed of rs6007897 and rs4044210 of CELSR1 with large artery atherosclerosis (LAA), a sub-type of IS (p < 0.01). 25117632 2015
dbSNP: rs6007897
rs6007897
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C0948008
Disease:
Ischemic stroke
0.030 GeneticVariation BEFREE In addition, a significant association was observed of rs6007897 and rs4044210 of CELSR1 with large artery atherosclerosis (LAA), a sub-type of IS (p < 0.01). 25117632 2015
dbSNP: rs4044210
rs4044210
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C0948008
Disease:
Ischemic stroke
0.030 GeneticVariation BEFREE Our aim was to test the association of four polymorphisms (rs1671021 in LLGL2, rs753307 in RUVBL2, rs6007897 and rs4044210 in CELSR1) previously identified as ischemic stroke (IS) risk factors in a phased GWAS performed on 6341 Japanese individuals [1]. 21511255 2011