Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607087
rs267607087
SPTLC1
0.810 GeneticVariation UNIPROT V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I. 30420926

2018
dbSNP: rs267607087
rs267607087
SPTLC1
0.810 GeneticVariation UNIPROT In this report we discussed an HSAN I patient with a missense mutation in SPTLC1 (c.992C>T: p.S331F). 24247255

2014
dbSNP: rs267607087
rs267607087
SPTLC1
T 0.810 CausalMutation CLINVAR In this report we discussed an HSAN I patient with a missense mutation in SPTLC1 (c.992C>T: p.S331F). 24247255

2014
dbSNP: rs267607087
rs267607087
SPTLC1
0.810 GeneticVariation BEFREE In this report we discussed an HSAN I patient with a missense mutation in SPTLC1 (c.992C>T: p.S331F). 24247255

2014
dbSNP: rs267607087
rs267607087
SPTLC1
T 0.810 CausalMutation CLINVAR Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. 23454272

2013
dbSNP: rs267607087
rs267607087
SPTLC1
0.810 GeneticVariation UNIPROT Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. 22302274

2012
dbSNP: rs267607087
rs267607087
SPTLC1
T 0.810 CausalMutation CLINVAR Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. 21618344

2011
dbSNP: rs267607087
rs267607087
SPTLC1
0.810 GeneticVariation UNIPROT Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. 21618344

2011
dbSNP: rs267607087
rs267607087
SPTLC1
0.810 GeneticVariation UNIPROT A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity. 20504773

2010
dbSNP: rs267607087
rs267607087
SPTLC1
0.810 GeneticVariation UNIPROT Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. 19651702

2009
dbSNP: rs267607087
rs267607087
SPTLC1
T 0.810 CausalMutation CLINVAR Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. 19651702

2009
dbSNP: rs267607087
rs267607087
SPTLC1
0.810 GeneticVariation UNIPROT 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: rs267607087
rs267607087
SPTLC1
0.810 GeneticVariation UNIPROT Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. 11242114

2001
dbSNP: rs267607088
rs267607088
SPTLC1
0.800 GeneticVariation UNIPROT V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I. 30420926

2018
dbSNP: rs267607088
rs267607088
SPTLC1
0.800 GeneticVariation UNIPROT Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation. 24247255

2014
dbSNP: rs267607088
rs267607088
SPTLC1
0.800 GeneticVariation UNIPROT Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. 22302274

2012
dbSNP: rs267607088
rs267607088
SPTLC1
0.800 GeneticVariation UNIPROT Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. 21618344

2011
dbSNP: rs267607088
rs267607088
SPTLC1
0.800 GeneticVariation UNIPROT A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity. 20504773

2010
dbSNP: rs267607088
rs267607088
SPTLC1
0.800 GeneticVariation UNIPROT 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: rs267607088
rs267607088
SPTLC1
0.800 GeneticVariation UNIPROT Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. 19651702

2009
dbSNP: rs267607088
rs267607088
SPTLC1
0.800 GeneticVariation UNIPROT Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. 11242114

2001
dbSNP: rs267607088
rs267607088
SPTLC1
A 0.800 CausalMutation CLINVAR

dbSNP: rs119482082
rs119482082
SPTLC1
C 0.730 CausalMutation CLINVAR HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. 26681808

2016
dbSNP: rs119482082
rs119482082
SPTLC1
C 0.730 CausalMutation CLINVAR Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. 22302274

2012
dbSNP: rs119482082
rs119482082
SPTLC1
0.730 GeneticVariation BEFREE In mice bearing a transgene expressing the C133W SPTLC1 mutant linked to HSAN1, a 10% L-serine–enriched diet reduced dSL levels. 22045570

2011