rs587777428, TUBB4A

N. diseases: 2
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 0.925 0.120 19 6495271 missense variant C/T snv 0.700 1.000 1 2014 2014
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
CUI: C1851943
Disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
4 0.925 0.120 19 6495271 missense variant C/T snv 0.700 0