rs1563595095, CHD7

N. diseases: 10
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.
Aortic coarctation
CUI: C0003492
Disease: Aortic coarctation
6 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
Asymmetric crying face association
CUI: C0431406
Disease: Asymmetric crying face association
2 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
CHARGE Syndrome
CUI: C0265354
Disease: CHARGE Syndrome
205 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
21 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
Laryngeal hypoplasia
CUI: C0431527
Disease: Laryngeal hypoplasia
2 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
Tracheal Stenosis
CUI: C0040583
Disease: Tracheal Stenosis
2 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0