Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553473041
rs1553473041
SCN9A ; SCN1A-AS1
C 0.700 CausalMutation CLINVAR Null mutation in SCN9A in which noxious stimuli can be detected in the absence of pain. 25253744

2014
dbSNP: rs200070962
rs200070962
SCN9A ; SCN1A-AS1
T 0.700 CausalMutation CLINVAR Null mutation in SCN9A in which noxious stimuli can be detected in the absence of pain. 25253744

2014
dbSNP: rs1553491169
rs1553491169
SCN9A ; SCN1A-AS1
T 0.700 GeneticVariation CLINVAR Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel. 23149731

2012
dbSNP: rs121908913
rs121908913
SCN9A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents. 21115638

2011
dbSNP: rs1295192882
rs1295192882
SCN9A ; SCN1A-AS1
A 0.700 GeneticVariation CLINVAR Two novel SCN9A mutations causing insensitivity to pain. 19304393

2009
dbSNP: rs1553491169
rs1553491169
SCN9A ; SCN1A-AS1
T 0.700 GeneticVariation CLINVAR A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. 19557861

2009
dbSNP: rs187558439
rs187558439
SCN9A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Two novel SCN9A mutations causing insensitivity to pain. 19304393

2009
dbSNP: rs746241591
rs746241591
SCN9A ; SCN1A-AS1
T 0.700 GeneticVariation CLINVAR Two novel SCN9A mutations causing insensitivity to pain. 19304393

2009
dbSNP: rs746241591
rs746241591
SCN9A ; SCN1A-AS1
A 0.700 GeneticVariation CLINVAR Two novel SCN9A mutations causing insensitivity to pain. 19304393

2009
dbSNP: rs755067851
rs755067851
SCN9A ; SCN1A-AS1
T 0.700 GeneticVariation CLINVAR Two novel SCN9A mutations causing insensitivity to pain. 19304393

2009
dbSNP: rs773824421
rs773824421
SCN9A ; SCN1A-AS1
G 0.700 GeneticVariation CLINVAR Two novel SCN9A mutations causing insensitivity to pain. 19304393

2009
dbSNP: rs121908913
rs121908913
SCN9A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation. 18599537

2008
dbSNP: rs1295192882
rs1295192882
SCN9A ; SCN1A-AS1
A 0.700 GeneticVariation CLINVAR Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 17470132

2007
dbSNP: rs187558439
rs187558439
SCN9A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 17470132

2007
dbSNP: rs746241591
rs746241591
SCN9A ; SCN1A-AS1
A 0.700 GeneticVariation CLINVAR Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 17470132

2007
dbSNP: rs746241591
rs746241591
SCN9A ; SCN1A-AS1
T 0.700 GeneticVariation CLINVAR Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 17470132

2007
dbSNP: rs755067851
rs755067851
SCN9A ; SCN1A-AS1
T 0.700 GeneticVariation CLINVAR Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 17470132

2007
dbSNP: rs773824421
rs773824421
SCN9A ; SCN1A-AS1
G 0.700 GeneticVariation CLINVAR Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 17470132

2007
dbSNP: rs779327684
rs779327684
SCN9A ; SCN1A-AS1
CA 0.700 CausalMutation CLINVAR Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 17470132

2007
dbSNP: rs121908910
rs121908910
SCN9A ; SCN1A-AS1
A 0.700 GeneticVariation CLINVAR SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. 17145499

2006
dbSNP: rs121908913
rs121908913
SCN9A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. 17145499

2006
dbSNP: rs111033591
rs111033591
WNK1
T 0.700 CausalMutation CLINVAR Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. 15911806

2005
dbSNP: rs137852735
rs137852735
WNK1
CA 0.700 CausalMutation CLINVAR Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. 15060842

2004
dbSNP: rs1057518900
rs1057518900
SCN9A ; SCN1A-AS1
A 0.700 CausalMutation CLINVAR Immunofluorescent and ultrastructural studies of polygonal microfilament networks in respreading non-muscle cells. 374104

1979
dbSNP: rs1057518162
rs1057518162
SCN9A ; SCN1A-AS1
T 0.700 CausalMutation CLINVAR