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rs80356469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356469(C;C)
Make rs80356469(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166304279
GeneSCN9A
is asnp
is mentioned by
dbSNPrs80356469
ebirs80356469
HLIrs80356469
Exacrs80356469
Varsomers80356469
Maprs80356469
PheGenIrs80356469
hapmaprs80356469
1000 genomesrs80356469
hgdprs80356469
ensemblrs80356469
gopubmedrs80356469
geneviewrs80356469
scholarrs80356469
googlers80356469
pharmgkbrs80356469
gwascentralrs80356469
openSNPrs80356469
23andMers80356469
23andMe allrs80356469
SNP Nexus

SNPshotrs80356469
SNPdbers80356469
MSV3drs80356469
GWAS Ctlgrs80356469
Max Magnitude0
OMIM603415
Desc
Variant0017
Relatedalso
ClinVar
Risk rs80356469(C;C)
Alt rs80356469(C;C)
Reference rs80356469(T;T)
Significance Pathogenic
Disease Primary erythromelalgia
Variation info
Gene SCN9A
CLNDBN Primary erythromelalgia
Reversed 1
HGVS NC_000002.11:g.167160789A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006737.2,


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


[PMID 16988069] Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy.


[PMID 17101882] Inherited erythermalgia moves a sodium channel into focus.