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: rs267607087
rs267607087
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
CUI: C0027889
Disease:
Hereditary Sensory and Autonomic Neuropathies 		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