rs121912585, KIF21A

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.
Fibrosis Of Extraocular Muscles, Congenital, 1
CUI: C1851102
Disease: Fibrosis Of Extraocular Muscles, Congenital, 1
7 0.851 0.160 12 39332405 missense variant G/A 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 0.851 0.160 12 39332405 missense variant G/A snv 0.700 0
Congenital Fibrosis of the Extraocular Muscles
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
4 0.851 0.160 12 39332405 missense variant G/A snv 0.030 1.000 3 2005 2011
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.851 0.160 12 39332405 missense variant G/A snv 0.010 1.000 1 2019 2019