rs80356471

Orientation

minus

Stabilized

minus

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

Make rs80356471(A;A)

Make rs80356471(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166288566

Gene	LOC101929680, SCN9A

is a	snp
is	mentioned by
dbSNP	rs80356471
dbSNP (classic)	rs80356471
ClinGen	rs80356471
ebi	rs80356471
HLI	rs80356471
Exac	rs80356471
Gnomad	rs80356471
Varsome	rs80356471
LitVar	rs80356471
Map	rs80356471
PheGenI	rs80356471
Biobank	rs80356471
1000 genomes	rs80356471
hgdp	rs80356471
ensembl	rs80356471
geneview	rs80356471
scholar	rs80356471
google	rs80356471
pharmgkb	rs80356471
gwascentral	rs80356471
openSNP	rs80356471
23andMe	rs80356471
SNPshot	rs80356471
SNPdbe	rs80356471
MSV3d	rs80356471
GWAS Ctlg	rs80356471

Max Magnitude

0

ClinVar
Risk	rs80356471(A;A) rs80356471(G;G)
Alt	rs80356471(A;A) rs80356471(G;G)
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	UniProtKB (protein)
CLNACC	RCV000237037.1, RCV000020510.1,

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