rs121909342, DCTN1

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.
Neuronopathy, Distal Hereditary Motor, Type Viib
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
1 0.827 0.200 2 74378104 missense variant C/G;T snv 0.800 1.000 9 2003 2016
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
139 0.827 0.200 2 74378104 missense variant C/G;T snv 0.700 1.000 7 2003 2016
Perry Syndrome
CUI: C1868594
Disease: Perry Syndrome
9 0.827 0.200 2 74378104 missense variant C/G;T snv 0.700 1.000 7 2003 2016
Motor neuron atrophy
CUI: C4024896
Disease: Motor neuron atrophy
21 0.827 0.200 2 74378104 missense variant C/G;T snv 0.010 1.000 1 2009 2009
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.827 0.200 2 74378104 missense variant C/G;T snv 0.010 1.000 1 2020 2020