Gene: NEK1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200161705
rs200161705
NEK1
0.020 GeneticVariation BEFREE Additional homozygous variants were identified, including the risk allele p.Arg261His in NEK1, as well as variants in genes known to be associated with other neurodegenerative diseases, such as HTT (Huntington's disease), ATM (Ataxia-Telangiectasia), and ZFYVE26 (SPG15), and variants in genes previously reported as upregulated (LZTS3) or downregulated (ARMC4, CFAP54, and MTHFSD) in ALS patients. 31108397

2019
dbSNP: rs200161705
rs200161705
NEK1
0.020 GeneticVariation BEFREE The missense variant, p.Arg261His, which was previously associated with ALS risk, was detected with a minor allele frequency of 0.90% in patients compared to 0.33% in controls. 28935222

2018
dbSNP: rs199947197
rs199947197
NEK1
0.010 GeneticVariation BEFREE A third LOF variant p.Ser1036* was present in 2 sibs with familial ALS but also in an unrelated control person. 28935222

2018