rs587776983, TUBB4A

N. diseases: 9
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.
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
CUI: C1851943
Disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
4 0.807 0.240 19 6502209 missense variant G/A;C;T snv 0.810 1.000 1 2017 2017
Leukodystrophy, Hypomyelinating, 6
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
28 0.807 0.240 19 6502209 missense variant G/A;C;T snv 0.700 1.000 2 2013 2014
Dysphonia
CUI: C1527344
Disease: Dysphonia
4 0.807 0.240 19 6502209 missense variant G/A;C;T snv 0.010 1.000 1 2014 2014
Dystonia, Primary
CUI: C0752203
Disease: Dystonia, Primary
5 0.807 0.240 19 6502209 missense variant G/A;C;T snv 0.010 1.000 1 2014 2014
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.807 0.240 19 6502209 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.807 0.240 19 6502209 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
Hoarseness
CUI: C0019825
Disease: Hoarseness
3 0.807 0.240 19 6502209 missense variant G/A;C;T snv 0.010 1.000 1 2014 2014
Laryngeal dystonia
CUI: C1963946
Disease: Laryngeal dystonia
2 0.807 0.240 19 6502209 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
Segmental dystonia
CUI: C1997740
Disease: Segmental dystonia
9 0.807 0.240 19 6502209 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013