rs121908919

Orientation

minus

Stabilized

minus

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

Make rs121908919(A;G)

Make rs121908919(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166281786

Gene	LOC101929680, SCN9A

is a	snp
is	mentioned by
dbSNP	rs121908919
dbSNP (classic)	rs121908919
ClinGen	rs121908919
ebi	rs121908919
HLI	rs121908919
Exac	rs121908919
Gnomad	rs121908919
Varsome	rs121908919
LitVar	rs121908919
Map	rs121908919
PheGenI	rs121908919
Biobank	rs121908919
1000 genomes	rs121908919
hgdp	rs121908919
ensembl	rs121908919
geneview	rs121908919
scholar	rs121908919
google	rs121908919
pharmgkb	rs121908919
gwascentral	rs121908919
openSNP	rs121908919
23andMe	rs121908919
SNPshot	rs121908919
SNPdbe	rs121908919
MSV3d	rs121908919
GWAS Ctlg	rs121908919

GMAF

0.001377

Max Magnitude

0

OMIM	603415
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121908919(G;G)
Alt	rs121908919(G;G)
Reference	Rs121908919(A;A)
Significance	Pathogenic
Disease	Generalized epilepsy with febrile seizures plus not specified Hereditary sensory and autonomic neuropathy type IIA Generalized epilepsy with febrile seizures plus Global developmental delay Hypoglycemia Seizures not provided
Variation	info
Gene	LOC101929680 SCN9A
CLNDBN	Generalized epilepsy with febrile seizures plus, type 7 not specified Hereditary sensory and autonomic neuropathy type IIA Generalized epilepsy with febrile seizures plus Global developmental delay Hypoglycemia Seizures not provided
Reversed	1
HGVS	NC_000002.11:g.167138296T>C
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000006739.4, RCV000153918.4, RCV000240382.2, RCV000293601.1, RCV000415152.1, RCV000488281.1,