rs121912586, KIF21A

N. diseases: 3
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.
Fibrosis Of Extraocular Muscles, Congenital, 1
CUI: C1851102
Disease: Fibrosis Of Extraocular Muscles, Congenital, 1
7 0.882 0.160 12 39332404 missense variant C/T snv 0.800 1.000 4 2003 2014
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)
CUI: C2751105
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)
3 0.882 0.160 12 39332404 missense variant C/T snv 0.700 0
A pattern strabismus
CUI: C1531795
Disease: A pattern strabismus
1 0.882 0.160 12 39332404 missense variant C/T snv 0.010 1.000 1 2005 2005