Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
0.710 GeneticVariation BEFREE Two mutations (K141E, K141N) in the small heat shock protein (sHSP) HSP22 (HSPB8) are associated with the inherited peripheral motor neuron disorders distal hereditary motor neuropathy type II and axonal Charcot-Marie-Tooth disease type 2L. 16935933

2006
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
G 0.710 CausalMutation CLINVAR