rs483352809, TUBB4A

N. diseases: 5
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.
Leukodystrophy, Hypomyelinating, 6
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
28 0.882 0.120 19 6495754 missense variant C/T snv 0.800 1.000 4 2013 2014
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
CUI: C1851943
Disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
4 0.882 0.120 19 6495754 missense variant C/T snv 0.010 1.000 1 2017 2017
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.882 0.120 19 6495754 missense variant C/T snv 0.010 1.000 1 2017 2017
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
40 0.882 0.120 19 6495754 missense variant C/T snv 0.010 1.000 1 2014 2014
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
40 0.882 0.120 19 6495754 missense variant C/T snv 0.010 1.000 1 2014 2014