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rs80356473

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356473(G;G)
Make rs80356473(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166278156
GeneSCN9A
is asnp
is mentioned by
dbSNPrs80356473
ebirs80356473
HLIrs80356473
Exacrs80356473
Varsomers80356473
Maprs80356473
PheGenIrs80356473
hapmaprs80356473
1000 genomesrs80356473
hgdprs80356473
ensemblrs80356473
gopubmedrs80356473
geneviewrs80356473
scholarrs80356473
googlers80356473
pharmgkbrs80356473
gwascentralrs80356473
openSNPrs80356473
23andMers80356473
23andMe allrs80356473
SNP Nexus

SNPshotrs80356473
SNPdbers80356473
MSV3drs80356473
GWAS Ctlgrs80356473
Max Magnitude0
ClinVar
Risk rs80356473(G;G)
Alt rs80356473(G;G)
Reference rs80356473(T;T)
Significance Pathogenic
Disease Primary erythromelalgia
Variation info
Gene LOC101929680 SCN9A
CLNDBN Primary erythromelalgia
Reversed 1
HGVS NC_000002.11:g.167134666A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020512.1,


[PMID 17985268] A case of primary erythermalgia, wintry hypothermia and encephalopathy.