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rs80356470

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356470(A;A)
Make rs80356470(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166303270
GeneSCN9A
is asnp
is mentioned by
dbSNPrs80356470
ebirs80356470
HLIrs80356470
Exacrs80356470
Varsomers80356470
Maprs80356470
PheGenIrs80356470
hapmaprs80356470
1000 genomesrs80356470
hgdprs80356470
ensemblrs80356470
gopubmedrs80356470
geneviewrs80356470
scholarrs80356470
googlers80356470
pharmgkbrs80356470
gwascentralrs80356470
openSNPrs80356470
23andMers80356470
23andMe allrs80356470
SNP Nexus

SNPshotrs80356470
SNPdbers80356470
MSV3drs80356470
GWAS Ctlgrs80356470
Max Magnitude0
OMIM603415
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356470(A;A)
Alt rs80356470(A;A)
Reference rs80356470(T;T)
Significance Pathogenic
Disease Primary erythromelalgia
Variation info
Gene SCN9A
CLNDBN Primary erythromelalgia
Reversed 1
HGVS NC_000002.11:g.167159780A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006723.3,


[PMID 16216943] Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.