rs41268673

Orientation

plus

Stabilized

plus

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

Make rs41268673(G;T)

Make rs41268673(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166284599

Gene	LOC101929680, SCN9A

is a	snp
is	mentioned by
dbSNP	rs41268673
dbSNP (classic)	rs41268673
ClinGen	rs41268673
ebi	rs41268673
HLI	rs41268673
Exac	rs41268673
Gnomad	rs41268673
Varsome	rs41268673
LitVar	rs41268673
Map	rs41268673
PheGenI	rs41268673
Biobank	rs41268673
1000 genomes	rs41268673
hgdp	rs41268673
ensembl	rs41268673
geneview	rs41268673
scholar	rs41268673
google	rs41268673
pharmgkb	rs41268673
gwascentral	rs41268673
openSNP	rs41268673
23andMe	rs41268673
SNPshot	rs41268673
SNPdbe	rs41268673
MSV3d	rs41268673
GWAS Ctlg	rs41268673

GMAF

0.01561

Max Magnitude

0

ClinVar
Risk	rs41268673(C;C) rs41268673(T;T)
Alt	rs41268673(C;C) rs41268673(T;T)
Reference	Rs41268673(G;G)
Significance	Other
Disease	Primary erythromelalgia not specified Inherited Erythromelalgia Generalized epilepsy with febrile seizures plus Hereditary sensory and autonomic neuropathy type IIA
Variation	info
Gene	LOC101929680 SCN9A
CLNDBN	Primary erythromelalgia not specified Inherited Erythromelalgia Generalized epilepsy with febrile seizures plus, type 7 Hereditary sensory and autonomic neuropathy type IIA
Reversed	0
HGVS	NC_000002.11:g.167141109G>T
CLNSRC	HGMD
CLNACC	RCV000020511.3, RCV000118296.8, RCV000314793.1, RCV000474864.1,

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

[PMID 23129781] Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.