rs200671094, BMP4

N. diseases: 4
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.
Bilateral microphthalmos
CUI: C1843496
Disease: Bilateral microphthalmos
11 0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06 0.010 1.000 1 2009 2009
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
21 0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06 0.010 1 2009 2009
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06 0.010 1 2009 2009
Unilateral cataract
CUI: C0521706
Disease: Unilateral cataract
1 0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06 0.010 1.000 1 2009 2009