rs587777074, TUBB4A

N. diseases: 7
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 0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06 0.700 0
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
Laryngeal dystonia
CUI: C1963946
Disease: Laryngeal dystonia
2 0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
Segmental dystonia
CUI: C1997740
Disease: Segmental dystonia
9 0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013