Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140992482
rs140992482
MPV17
0.010 GeneticVariation BEFREE Recently, two patients with juvenile-onset peripheral sensorimotor neuropathy associated with an MVP17 c.122G>A (p.Arg41Gln) variant have been reported. 30298599

2019
dbSNP: rs140992482
rs140992482
MPV17
0.010 GeneticVariation BEFREE Recently, two patients with juvenile-onset peripheral sensorimotor neuropathy associated with an MVP17 c.122G>A (p.Arg41Gln) variant have been reported. 30298599

2019