rs759125480, CEP120

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
0.700 GeneticVariation CLINVAR
Anus, Imperforate
CUI: C0003466
Disease: Anus, Imperforate
0.700 GeneticVariation CLINVAR
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
0.700 GeneticVariation CLINVAR
Congenital ear anomaly NOS (disorder)
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
0.700 GeneticVariation CLINVAR
Short columella
CUI: C1857479
Disease: Short columella
0.700 GeneticVariation CLINVAR
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
0.700 GeneticVariation CLINVAR
Abnormality of the outer ear
CUI: C1846460
Disease: Abnormality of the outer ear
0.700 GeneticVariation CLINVAR
Anteriorly placed anus
CUI: C1838705
Disease: Anteriorly placed anus
0.700 GeneticVariation CLINVAR
ATRIOVENTRICULAR CANAL DEFECT
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
0.700 GeneticVariation CLINVAR
Neck webbing
CUI: C0221217
Disease: Neck webbing
0.700 GeneticVariation CLINVAR
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
0.700 GeneticVariation CLINVAR
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR
Hirsutism
CUI: C0019572
Disease: Hirsutism
0.700 GeneticVariation CLINVAR
Short neck
CUI: C0521525
Disease: Short neck
0.700 GeneticVariation CLINVAR
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
CUI: C4225378
Disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
0.700 GeneticVariation CLINVAR
Dysplastic aortic valve
CUI: C1866207
Disease: Dysplastic aortic valve
0.700 GeneticVariation CLINVAR