Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
0.020 GeneticVariation BEFREE To understand the underlying mechanisms how the mutations lead to motor neuropathy, we generated transgenic mice with neuron-specific expression of wild-type (tgWT) or N88S/S90L mutant (tgMT) human Seipin. 23470542

2013
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
0.020 GeneticVariation BEFREE This report suggests that a different type of distal hereditary motor neuropathy could exist within one family carrying N88S mutations. 19323790

2009