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rs80356475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356475(A;A)
Make rs80356475(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166277251
GeneAC010127.3, SCN9A
is asnp
is mentioned by
dbSNPrs80356475
ebirs80356475
HLIrs80356475
Exacrs80356475
Varsomers80356475
Maprs80356475
PheGenIrs80356475
hapmaprs80356475
1000 genomesrs80356475
hgdprs80356475
ensemblrs80356475
gopubmedrs80356475
geneviewrs80356475
scholarrs80356475
googlers80356475
pharmgkbrs80356475
gwascentralrs80356475
openSNPrs80356475
23andMers80356475
23andMe allrs80356475
SNP Nexus

SNPshotrs80356475
SNPdbers80356475
MSV3drs80356475
GWAS Ctlgrs80356475
Max Magnitude0
OMIM603415
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356475(A;A)
Alt rs80356475(A;A)
Reference rs80356475(T;T)
Significance Pathogenic
Disease Primary erythromelalgia
Variation info
Gene LOC101929680 SCN9A
CLNDBN Primary erythromelalgia
Reversed 1
HGVS NC_000002.11:g.167133761A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006721.2,


[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 16702558OA-icon.png] A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons.