Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10437653
rs10437653
Entrez Id: 90993;101928919
Gene Symbol: CREB3L1;LINC02489
CREB3L1;LINC02489
CUI: C0005612
Disease:
Birth Weight
A 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs140887381
rs140887381
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7476
rs7476
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C1704436
Disease:
Peripheral Arterial Diseases
C 0.700 GeneticVariation GWASCAT Genome-wide association study of peripheral artery disease in the Million Veteran Program. 31285632 2019
dbSNP: rs111942477
rs111942477
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C0596887
Disease:
mathematical ability
A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs73461870
rs73461870
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
A 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs7927724
rs7927724
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C1269683
Disease:
Major Depressive Disorder
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs7927724
rs7927724
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C0525045
Disease:
Mood Disorders
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
dbSNP: rs4625425
rs4625425
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs6485674
rs6485674
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs7924718
rs7924718
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs12280680
rs12280680
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C0428568
Disease:
Fasting blood glucose measurement
A 0.700 GeneticVariation GWASCAT A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. 22581228 2012
dbSNP: rs1555222973
rs1555222973
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C4015610
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XVI
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555222973
rs1555222973
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C0029453
Disease:
Osteopenia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555222973
rs1555222973
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C4551464
Disease:
Aplasia/hypoplasia of the extremities
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555222973
rs1555222973
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C0029434
Disease:
Osteogenesis Imperfecta
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555222973
rs1555222973
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C0542514
Disease:
Blue sclera
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555222973
rs1555222973
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C1390474
Disease:
Increased susceptibility to fractures
T 0.700 CausalMutation CLINVAR
dbSNP: rs779809838
rs779809838
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
CUI: C4015610
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XVI
A 0.700 CausalMutation CLINVAR