Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1024152367
rs1024152367
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1855739
Disease:
Indifference to Pain, Congenital, Autosomal Recessive 		0.710 GeneticVariation UNIPROT
dbSNP: rs1024152367
rs1024152367
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1855739
Disease:
Indifference to Pain, Congenital, Autosomal Recessive 		0.710 GeneticVariation BEFREE Here, we describe the identification and functional characterization of two novel non-truncating mutations in families with CIP: a homozygously-inherited missense mutation found in a consanguineous Israeli Bedouin family (Na(v)1.7-R896Q) and a five amino acid in-frame deletion found in a sporadic compound heterozygote (Na(v)1.7-DeltaR1370-L1374). 20635406 2010
dbSNP: rs1057518162
rs1057518162
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C2751778
Disease:
Generalized Epilepsy With Febrile Seizures Plus, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518162
rs1057518162
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C2752089
Disease:
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518900
rs1057518900
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C2751778
Disease:
Generalized Epilepsy With Febrile Seizures Plus, 7 		A 0.700 CausalMutation CLINVAR Immunofluorescent and ultrastructural studies of polygonal microfilament networks in respreading non-muscle cells. 374104 1979
dbSNP: rs1057518900
rs1057518900
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C2752089
Disease:
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		A 0.700 CausalMutation CLINVAR Immunofluorescent and ultrastructural studies of polygonal microfilament networks in respreading non-muscle cells. 374104 1979
dbSNP: rs1057518900
rs1057518900
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0344307
Disease:
Absence of pain sensation 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060502047
rs1060502047
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C2752089
Disease:
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1060502047
rs1060502047
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C2751778
Disease:
Generalized Epilepsy With Febrile Seizures Plus, 7 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1131691776
rs1131691776
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		0.810 GeneticVariation BEFREE The novel p.L1612P Nav1.7 mutation expands the PEPD spectrum with a unique combination of clinical symptoms and electrophysiological properties. 25285947 2015
dbSNP: rs1131691776
rs1131691776
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		0.810 GeneticVariation UNIPROT
dbSNP: rs1131691776
rs1131691776
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		G 0.810 CausalMutation CLINVAR
dbSNP: rs11898284
rs11898284
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0030193
Disease:
Pain 		0.010 GeneticVariation BEFREE Four candidate SNPs (rs6746030, rs7595255, rs12622743, and rs11898284) and 10 tag SNPs were associated (P < .05) with different pain perception phenotypes and exhibited opposite effects, resulting in either hypersensitivity or hyposensitivity. 26168879 2015
dbSNP: rs121908908
rs121908908
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1855739
Disease:
Indifference to Pain, Congenital, Autosomal Recessive 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121908909
rs121908909
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1855739
Disease:
Indifference to Pain, Congenital, Autosomal Recessive 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121908910
rs121908910
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121908910
rs121908910
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		0.800 GeneticVariation UNIPROT SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. 17145499 2006
dbSNP: rs121908910
rs121908910
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		0.800 GeneticVariation UNIPROT p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder. 25285947 2015
dbSNP: rs121908910
rs121908910
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		0.800 GeneticVariation UNIPROT NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. 18945915 2008
dbSNP: rs121908910
rs121908910
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C2751778
Disease:
Generalized Epilepsy With Febrile Seizures Plus, 7 		A 0.700 GeneticVariation CLINVAR SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. 17145499 2006
dbSNP: rs121908910
rs121908910
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C2752089
Disease:
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		A 0.700 GeneticVariation CLINVAR SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. 17145499 2006
dbSNP: rs121908911
rs121908911
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		0.800 GeneticVariation UNIPROT NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. 18945915 2008
dbSNP: rs121908911
rs121908911
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		0.800 GeneticVariation UNIPROT p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder. 25285947 2015
dbSNP: rs121908911
rs121908911
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		0.800 GeneticVariation UNIPROT SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. 17145499 2006
dbSNP: rs121908911
rs121908911
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		T 0.800 CausalMutation CLINVAR