Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519305
rs1057519305
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C4310640
Disease:
NEPHRONOPHTHISIS 20
A 0.800 CausalMutation CLINVAR
dbSNP: rs1057519305
rs1057519305
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C4310640
Disease:
NEPHRONOPHTHISIS 20
0.800 GeneticVariation UNIPROT
dbSNP: rs1105881
rs1105881
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C0205682
Disease:
Waist-Hip Ratio
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11855017
rs11855017
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C0424678
Disease:
Lean body mass
0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
dbSNP: rs11855017
rs11855017
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12440605
rs12440605
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C0205682
Disease:
Waist-Hip Ratio
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs2695165
rs2695165
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C0042834
Disease:
Vital capacity
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7175346
rs7175346
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C0205682
Disease:
Waist-Hip Ratio
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs1105881
rs1105881
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C0205682
Disease:
Waist-Hip Ratio
G 0.700 GeneticVariation GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
dbSNP: rs8035855
rs8035855
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C0001925
Disease:
Albuminuria
A 0.700 GeneticVariation GWASCAT Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure. 30220432 2018
dbSNP: rs4923910
rs4923910
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C0428883
Disease:
Diastolic blood pressure
G 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs1057519303
rs1057519303
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C4310640
Disease:
NEPHRONOPHTHISIS 20
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519304
rs1057519304
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C4310640
Disease:
NEPHRONOPHTHISIS 20
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519306
rs1057519306
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C4310640
Disease:
NEPHRONOPHTHISIS 20
A 0.700 CausalMutation CLINVAR
dbSNP: rs202001274
rs202001274
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C4310640
Disease:
NEPHRONOPHTHISIS 20
T 0.700 CausalMutation CLINVAR
dbSNP: rs752616462
rs752616462
Entrez Id: 23005
Gene Symbol: MAPKBP1
MAPKBP1
CUI: C4310640
Disease:
NEPHRONOPHTHISIS 20
T 0.700 CausalMutation CLINVAR