Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356476

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356476(C;T)
Make rs80356476(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166277252
GeneAC010127.3, SCN9A
is asnp
is mentioned by
dbSNPrs80356476
ebirs80356476
HLIrs80356476
Exacrs80356476
Varsomers80356476
Maprs80356476
PheGenIrs80356476
hapmaprs80356476
1000 genomesrs80356476
hgdprs80356476
ensemblrs80356476
gopubmedrs80356476
geneviewrs80356476
scholarrs80356476
googlers80356476
pharmgkbrs80356476
gwascentralrs80356476
openSNPrs80356476
23andMers80356476
23andMe allrs80356476
SNP Nexus

SNPshotrs80356476
SNPdbers80356476
MSV3drs80356476
GWAS Ctlgrs80356476
Max Magnitude0
OMIM603415
Desc
Variant0016
Relatedalso
ClinVar
Risk rs80356476(T;T)
Alt rs80356476(T;T)
Reference rs80356476(C;C)
Significance Pathogenic
Disease Primary erythromelalgia
Variation info
Gene LOC101929680 SCN9A
CLNDBN Primary erythromelalgia
Reversed 1
HGVS NC_000002.11:g.167133762G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006736.2,


[PMID 15955112] SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.


[PMID 16392115] Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.