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rs80356477

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356477(G;T)
Make rs80356477(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166277237
GeneSCN9A
is asnp
is mentioned by
dbSNPrs80356477
ebirs80356477
HLIrs80356477
Exacrs80356477
Varsomers80356477
Maprs80356477
PheGenIrs80356477
hapmaprs80356477
1000 genomesrs80356477
hgdprs80356477
ensemblrs80356477
gopubmedrs80356477
geneviewrs80356477
scholarrs80356477
googlers80356477
pharmgkbrs80356477
gwascentralrs80356477
openSNPrs80356477
23andMers80356477
23andMe allrs80356477
SNP Nexus

SNPshotrs80356477
SNPdbers80356477
MSV3drs80356477
GWAS Ctlgrs80356477
Max Magnitude0
ClinVar
Risk rs80356477(C,T;C,T)
Alt rs80356477(C,T;C,T)
Reference rs80356477(G;G)
Significance Pathogenic
Disease Primary erythromelalgia
Variation info
Gene LOC101929680 SCN9A
CLNDBN Primary erythromelalgia
Reversed 1
HGVS NC_000002.11:g.167133747C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020513.1,


[PMID 17135418] Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.