Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517686
rs1057517686
T 0.700 GeneticVariation CLINVAR Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. 27640307

2016

dbSNP: rs672601368
rs672601368
T 0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474

2016

dbSNP: rs755919784
rs755919784
C 0.700 GeneticVariation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015

dbSNP: rs765211108
rs765211108
T 0.700 GeneticVariation CLINVAR NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. 25220016

2015

dbSNP: rs774909609
rs774909609
T 0.700 GeneticVariation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015

dbSNP: rs796051881
rs796051881
CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973

2015

dbSNP: rs879253869
rs879253869
T 0.700 GeneticVariation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015

dbSNP: rs587783070
rs587783070
T 0.700 CausalMutation CLINVAR Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. 25130867

2014

dbSNP: rs1556488264
rs1556488264
C 0.700 CausalMutation CLINVAR

dbSNP: rs1559931177
rs1559931177
A 0.700 CausalMutation CLINVAR

dbSNP: rs1563518388
rs1563518388
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1565538350
rs1565538350
A 0.700 CausalMutation CLINVAR

dbSNP: rs28928910
rs28928910
A 0.700 CausalMutation CLINVAR

dbSNP: rs28928910
rs28928910
A 0.700 GeneticVariation CLINVAR

dbSNP: rs377504835
rs377504835
C 0.700 GeneticVariation CLINVAR

dbSNP: rs397507478
rs397507478
A 0.700 GeneticVariation CLINVAR

dbSNP: rs72653786
rs72653786
T 0.700 CausalMutation CLINVAR

dbSNP: rs761665644
rs761665644
G 0.700 CausalMutation CLINVAR

dbSNP: rs769405586
rs769405586
T 0.700 CausalMutation CLINVAR

dbSNP: rs777219451
rs777219451
T 0.700 GeneticVariation CLINVAR

dbSNP: rs781939614
rs781939614
A 0.700 CausalMutation CLINVAR

dbSNP: rs781984979
rs781984979
A 0.700 CausalMutation CLINVAR

dbSNP: rs794728588
rs794728588
T 0.700 GeneticVariation CLINVAR

dbSNP: rs76992529
rs76992529
TTR
0.020 GeneticVariation BEFREE On multivariate analysis, age at diagnosis (risk ratio, 15.65; p < 0.0001), Thr60Ala mutation (risk ratio, 1.52; p = 0.04), Val122Ile mutation (risk ratio, 2.83; p = 0.003), peripheral neuropathy (risk ratio, 1.69; p = 0.013) and weight loss (risk ratio, 1.81; p = 0.002) were risk factors for death. 26017327

2015

dbSNP: rs76992529
rs76992529
TTR
0.020 GeneticVariation BEFREE The patient and some members of his family also had mild peripheral neuropathy suggesting a regional phenotypic heterogeneity of European Caucasian TTR p.Val122Ile. 22449240

2012