rs104893951, FOXC1

N. diseases: 5
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.
AXENFELD-RIEGER SYNDROME, TYPE 3
CUI: C2678503
Disease: AXENFELD-RIEGER SYNDROME, TYPE 3
27 0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06 0.800 1.000 20 1998 2017
IRIS HYPOPLASIA WITH GLAUCOMA
CUI: C1839928
Disease: IRIS HYPOPLASIA WITH GLAUCOMA
5 0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06 0.700 1.000 6 1998 2011
Axenfeld-Rieger syndrome
CUI: C3495488
Disease: Axenfeld-Rieger syndrome
7 0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2003 2003
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2008 2008
Irido-corneo-trabecular dysgenesis (disorder)
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
12 0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2003 2003