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rs80356478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356478(G;G)
Make rs80356478(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166226587
GeneAC010127.3, SCN9A
is asnp
is mentioned by
dbSNPrs80356478
ebirs80356478
HLIrs80356478
Exacrs80356478
Varsomers80356478
Maprs80356478
PheGenIrs80356478
hapmaprs80356478
1000 genomesrs80356478
hgdprs80356478
ensemblrs80356478
gopubmedrs80356478
geneviewrs80356478
scholarrs80356478
googlers80356478
pharmgkbrs80356478
gwascentralrs80356478
openSNPrs80356478
23andMers80356478
23andMe allrs80356478
SNP Nexus

SNPshotrs80356478
SNPdbers80356478
MSV3drs80356478
GWAS Ctlgrs80356478
Max Magnitude0
OMIM603415
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80356478(G;G)
Alt rs80356478(G;G)
Reference rs80356478(T;T)
Significance Pathogenic
Disease Primary erythromelalgia
Variation info
Gene LOC101929680 SCN9A
CLNDBN Primary erythromelalgia
Reversed 1
HGVS NC_000002.11:g.167083097A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006724.2,


[PMID 1536168] Autosomal dominant erythromelalgia.


[PMID 15958509] Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.