Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854432
rs137854432
TK2
0.010 GeneticVariation BEFREE The other siblings harbored a homozygous I22M mutation, and one of them had evidence of lower motor neuron disease. 12391347

2002
dbSNP: rs773398906
rs773398906
DGKE ; C17orf67
0.010 GeneticVariation BEFREE The other siblings harbored a homozygous I22M mutation, and one of them had evidence of lower motor neuron disease. 12391347

2002
dbSNP: rs1373426298
rs1373426298
IGFALS ; SPSB3
0.010 GeneticVariation BEFREE This study shows that SOD1 G93D mutation causes a slowly developing lower motor neuron disease with a reduced penetrance. 18273717

2008
dbSNP: rs774994509
rs774994509
SOD1
0.010 GeneticVariation BEFREE This study shows that SOD1 G93D mutation causes a slowly developing lower motor neuron disease with a reduced penetrance. 18273717

2008
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
0.010 GeneticVariation BEFREE The alanine to valine mutation at codon 4 (A4V) of SOD1 causes a rapidly progressive dominant form of amyotrophic lateral sclerosis (ALS) with exclusively lower motor neuron disease and is responsible for 50% of SOD1 mutations associated with familial ALS in North America.This mutation is rare in Europe. 19176896

2009
dbSNP: rs74315431
rs74315431
VAPB
0.010 GeneticVariation BEFREE Missense mutations (P56S) in Vapb are associated with autosomal dominant motor neuron diseases: amyotrophic lateral sclerosis and lower motor neuron disease. 26362257

2015
dbSNP: rs755642199
rs755642199
MATR3
0.010 GeneticVariation BEFREE One female patient was found to carry the D348G mutation in MAPT, previously reported in an Italian family with lower motor neuron disease. 30893702

2018