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rs80356468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356468(A;G)
Make rs80356468(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position166306571
GeneSCN9A
is asnp
is mentioned by
dbSNPrs80356468
ebirs80356468
HLIrs80356468
Exacrs80356468
Varsomers80356468
Maprs80356468
PheGenIrs80356468
hapmaprs80356468
1000 genomesrs80356468
hgdprs80356468
ensemblrs80356468
gopubmedrs80356468
geneviewrs80356468
scholarrs80356468
googlers80356468
pharmgkbrs80356468
gwascentralrs80356468
openSNPrs80356468
23andMers80356468
23andMe allrs80356468
SNP Nexus

SNPshotrs80356468
SNPdbers80356468
MSV3drs80356468
GWAS Ctlgrs80356468
Max Magnitude0
ClinVar
Risk rs80356468(G;G)
Alt rs80356468(G;G)
Reference rs80356468(A;A)
Significance Pathogenic
Disease Primary erythromelalgia
Variation info
Gene SCN9A
CLNDBN Primary erythromelalgia
Reversed 1
HGVS NC_000002.11:g.167163081T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020515.1,


[PMID 17294067] Characterization of a familial case with primary erythromelalgia from Taiwan.


[PMID 18171466OA-icon.png] Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade.