Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555631390
rs1555631390
TTR
GTGAGTC 0.700 CausalMutation CLINVAR Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease. 29941560

2018
dbSNP: rs1555817157
rs1555817157
ABHD12
A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850

2018
dbSNP: rs1057518839
rs1057518839
MPZ
C 0.700 GeneticVariation CLINVAR

dbSNP: rs119482082
rs119482082
SPTLC1
C 0.700 CausalMutation CLINVAR

dbSNP: rs121909093
rs121909093
DNM2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs142433332
rs142433332
DARS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553201258
rs1553201258
DARS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1564045331
rs1564045331
XPA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267607261
rs267607261
MPV17
T 0.700 CausalMutation CLINVAR

dbSNP: rs368900406
rs368900406
MPV17
C 0.700 GeneticVariation CLINVAR

dbSNP: rs398123631
rs398123631
COL6A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs587784347
rs587784347
PLA2G6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs61755320
rs61755320
SPG7
T 0.700 CausalMutation CLINVAR

dbSNP: rs778543124
rs778543124
XPA
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338933
rs80338933
SH3TC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338937
rs80338937
SH3TC2
A 0.700 CausalMutation CLINVAR

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
dbSNP: rs61734216
rs61734216
MAL
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: rs58982919
rs58982919
NEFL
0.010 GeneticVariation BEFREE We conclude that the NEFL N98S mutation is associated with a DI-CMT phenotype characterized by early-onset sensorimotor neuropathy delaying motor milestones, which may evolve into a severe and complex clinical picture including cerebellar ataxia. 26645395

2016
dbSNP: rs151103940
rs151103940
OPA1
0.010 GeneticVariation BEFREE An OPA1 missense mutation, c.239A→G (p.Y80C), was identified in an 11-year-old black girl with optic atrophy and peripheral sensorimotor neuropathy in her lower limbs. 21036400

2011