Disease: Hereditary Sensory and Autonomic Neuropathies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119482084
rs119482084
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
CUI: C0027889
Disease:
Hereditary Sensory and Autonomic Neuropathies 		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