Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759125480
rs759125480
CEP120
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C4225378
Disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C1857479
Disease: Short columella
Short columella 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C0521525
Disease: Short neck
Short neck 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C0019572
Disease: Hirsutism
Hirsutism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C1866207
Disease: Dysplastic aortic valve
Dysplastic aortic valve 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs759125480
rs759125480
CEP120
CUI: C0221217
Disease: Neck webbing
Neck webbing 		A 0.700 GeneticVariation CLINVAR