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rs80356471

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356471(A;A)
Make rs80356471(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position166288566
GeneSCN9A
is asnp
is mentioned by
dbSNPrs80356471
ebirs80356471
HLIrs80356471
Exacrs80356471
Varsomers80356471
Maprs80356471
PheGenIrs80356471
hapmaprs80356471
1000 genomesrs80356471
hgdprs80356471
ensemblrs80356471
gopubmedrs80356471
geneviewrs80356471
scholarrs80356471
googlers80356471
pharmgkbrs80356471
gwascentralrs80356471
openSNPrs80356471
23andMers80356471
23andMe allrs80356471
SNP Nexus

SNPshotrs80356471
SNPdbers80356471
MSV3drs80356471
GWAS Ctlgrs80356471
Max Magnitude0
ClinVar
Risk rs80356471(A;A)
Alt rs80356471(A;A)
Reference rs80356471(C;C)
Significance Pathogenic
Disease not provided Primary erythromelalgia
Variation info
Gene LOC101929680 SCN9A
CLNDBN not provided Primary erythromelalgia
Reversed 1
HGVS NC_000002.11:g.167145076G>C; NC_000002.11:g.167145076G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000237037.1, RCV000020510.1,


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