rs759125480, CEP120

N. diseases: 16
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormality of the outer ear
CUI: C1846460
Disease: Abnormality of the outer ear
8 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
Anteriorly placed anus
CUI: C1838705
Disease: Anteriorly placed anus
5 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
Anus, Imperforate
CUI: C0003466
Disease: Anus, Imperforate
9 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
ATRIOVENTRICULAR CANAL DEFECT
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
14 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
Congenital ear anomaly NOS (disorder)
5 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
Dysplastic aortic valve
CUI: C1866207
Disease: Dysplastic aortic valve
2 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
Hirsutism
CUI: C0019572
Disease: Hirsutism
17 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
Short columella
CUI: C1857479
Disease: Short columella
5 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
2 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0