JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939668
rs28939668
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0039685
Disease:
Tetralogy of Fallot 		T 0.830 CausalMutation CLINVAR
dbSNP: rs121918350
rs121918350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918352
rs121918352
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121918353
rs121918353
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1866053
Disease:
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1060501347
rs1060501347
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs1060501349
rs1060501349
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1060501350
rs1060501350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060501351
rs1060501351
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060501352
rs1060501352
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918351
rs121918351
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0039685
Disease:
Tetralogy of Fallot 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918351
rs121918351
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1866053
Disease:
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1839829
Disease:
Short distal phalanx of finger 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1836038
Disease:
Poor head control 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C2146481
Disease:
Bilateral vocal cord paralysis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0549629
Disease:
Abnormal delivery 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0020651
Disease:
Hypotension, Orthostatic 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0240421
Disease:
Progressive muscle weakness 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956257
Disease:
Pulmonary Stenosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1866934
Disease:
Reduced tendon reflexes 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0015644
Disease:
Muscular fasciculation 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0575802
Disease:
Small hand 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0012569
Disease:
Diplopia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0027092
Disease:
Myopia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1294950721
rs1294950721
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C3277688
Disease:
Progressive forgetfulness 		A 0.700 CausalMutation CLINVAR