rs587784505, TUBB3

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.
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
10 0.882 0.160 16 89934743 missense variant G/A snv 0.700 0
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
9 0.882 0.160 16 89934743 missense variant G/A snv 0.700 0
Macular dystrophy, corneal type 1
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
54 0.882 0.160 16 89934743 missense variant G/A snv 0.010 1.000 1 2016 2016