rs80356473

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs80356473(G;G)

Make rs80356473(G;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166278156

Gene	LOC101929680, SCN9A

is a	snp
is	mentioned by
dbSNP	rs80356473
dbSNP (classic)	rs80356473
ClinGen	rs80356473
ebi	rs80356473
HLI	rs80356473
Exac	rs80356473
Gnomad	rs80356473
Varsome	rs80356473
LitVar	rs80356473
Map	rs80356473
PheGenI	rs80356473
Biobank	rs80356473
1000 genomes	rs80356473
hgdp	rs80356473
ensembl	rs80356473
geneview	rs80356473
scholar	rs80356473
google	rs80356473
pharmgkb	rs80356473
gwascentral	rs80356473
openSNP	rs80356473
23andMe	rs80356473
SNPshot	rs80356473
SNPdbe	rs80356473
MSV3d	rs80356473
GWAS Ctlg	rs80356473

Max Magnitude

0

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.