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rs80356474

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356474(C;C)
Make rs80356474(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166277281
GeneAC010127.3, SCN9A
is asnp
is mentioned by
dbSNPrs80356474
ebirs80356474
HLIrs80356474
Exacrs80356474
Varsomers80356474
Maprs80356474
PheGenIrs80356474
hapmaprs80356474
1000 genomesrs80356474
hgdprs80356474
ensemblrs80356474
gopubmedrs80356474
geneviewrs80356474
scholarrs80356474
googlers80356474
pharmgkbrs80356474
gwascentralrs80356474
openSNPrs80356474
23andMers80356474
23andMe allrs80356474
SNP Nexus

SNPshotrs80356474
SNPdbers80356474
MSV3drs80356474
GWAS Ctlgrs80356474
Max Magnitude0
OMIM603415
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356474(C;C)
Alt rs80356474(C;C)
Reference rs80356474(T;T)
Significance Pathogenic
Disease Primary erythromelalgia
Variation info
Gene LOC101929680 SCN9A
CLNDBN Primary erythromelalgia
Reversed 1
HGVS NC_000002.11:g.167133791A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006722.2,


[PMID 14985375OA-icon.png] Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.


[PMID 15385606] Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.


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


[PMID 18347287] Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A.