Disease: Erythromelalgia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014804
Disease:
Erythromelalgia 		0.010 GeneticVariation BEFREE The cooling-dependent shift of the activation midpoint of L858F to more positive potentials brings the threshold of activation of the mutant channels closer to that of wild type Nav1.7 at lower temperatures, and is likely to contribute to the alleviation of painful symptoms upon cooling in affected limbs in patients with this erythromelalgia mutation. 17239250 2007