rs1557570794, ARID1A

N. diseases: 15
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 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
Congenital atresia of mitral valve
CUI: C0344760
Disease: Congenital atresia of mitral valve
2 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
Congenital hypoplasia of aortic arch
1 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
Congenital hypoplasia of tricuspid valve
1 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
Double Outlet Right Ventricle
CUI: C0013069
Disease: Double Outlet Right Ventricle
16 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
Hypoplastic Left Heart Syndrome
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
7 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
Macrocephaly at birth
CUI: C1836599
Disease: Macrocephaly at birth
6 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
12 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
Sacral dimple
CUI: C0426848
Disease: Sacral dimple
11 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
Single umbilical artery
CUI: C1384670
Disease: Single umbilical artery
5 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
Wide anterior fontanel
CUI: C1866134
Disease: Wide anterior fontanel
5 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0