Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777108
rs587777108
ATL3 ; LOC107984336
0.020 GeneticVariation BEFREE Moreover, 2 hereditary sensory and autonomic neuropathies type 1 (HSANI)-associated mutations of ATL3 (Tyr192Cys and Pro338Arg) impair ATL3's binding to GABARAP and function in reticulophagy. 31032711

2019
dbSNP: rs587777108
rs587777108
ATL3 ; LOC107984336
0.020 GeneticVariation BEFREE The same mutation (p.Tyr192Cys) was identified in a second family with similar clinical outcome by screening a large cohort of 115 patients with hereditary sensory and autonomic neuropathies. 24459106

2014
dbSNP: rs1468358104
rs1468358104
FLVCR1 ; FLVCR1-DT
0.010 GeneticVariation BEFREE We overexpressed the c.2T>C; p.(Met1Thr) mutant in human cell lines and we describe its impact on protein structure and function in comparison with other HSAN-related mutations. 31408049

2019
dbSNP: rs119482084
rs119482084
SPTLC1
0.010 GeneticVariation BEFREE These findings were genetically confirmed by the identification of a nuclear HSAN family which showed segregation of the G387A variant as a non-synonymous SNP. 19132419

2009
dbSNP: rs267607087
rs267607087
SPTLC1
0.010 GeneticVariation BEFREE In SPTLC1, we detected a novel mutation (S331F) corresponding to a previously unknown severe and early-onset HSAN phenotype. 19651702

2009
dbSNP: rs754805007
rs754805007
NGFR ; LOC100288866
0.010 GeneticVariation BEFREE In SPTLC1, we detected a novel mutation (S331F) corresponding to a previously unknown severe and early-onset HSAN phenotype. 19651702

2009
dbSNP: rs781698345
rs781698345
NTRK1
0.010 GeneticVariation BEFREE In SPTLC1, we detected a novel mutation (S331F) corresponding to a previously unknown severe and early-onset HSAN phenotype. 19651702

2009