Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119482083
rs119482083
SPTLC1
T 0.700 GeneticVariation CLINVAR HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. 26681808

2016
dbSNP: rs119482083
rs119482083
SPTLC1
T 0.700 GeneticVariation CLINVAR Mitochondrial protein alterations in a familial peripheral neuropathy caused by the V144D amino acid mutation in the sphingolipid protein, SPTLC1. 25584079

2015
dbSNP: rs119482083
rs119482083
SPTLC1
T 0.700 GeneticVariation CLINVAR Mutations in the SPTLC1 protein cause mitochondrial structural abnormalities and endoplasmic reticulum stress in lymphoblasts. 24673574

2014
dbSNP: rs119482083
rs119482083
SPTLC1
T 0.700 GeneticVariation CLINVAR A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. 19132419

2009
dbSNP: rs119482083
rs119482083
SPTLC1
T 0.700 GeneticVariation CLINVAR Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. 11242114

2001
dbSNP: rs119482083
rs119482083
SPTLC1
T 0.700 CausalMutation CLINVAR