rs398122369, TUBB2B

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 7
CUI: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
14 0.882 0.160 6 3224828 missense variant C/T snv 0.800 1.000 4 2009 2016
Congenital Fibrosis of the Extraocular Muscles
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
4 0.882 0.160 6 3224828 missense variant C/T snv 0.010 1.000 1 2012 2012
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.882 0.160 6 3224828 missense variant C/T snv 0.010 1.000 1 2012 2012