rs1057518243

Orientation

minus

Stabilized

minus

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

Make rs1057518243(G;T)

Make rs1057518243(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

166047763

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs1057518243
dbSNP (classic)	rs1057518243
ClinGen	rs1057518243
ebi	rs1057518243
HLI	rs1057518243
Exac	rs1057518243
Gnomad	rs1057518243
Varsome	rs1057518243
LitVar	rs1057518243
Map	rs1057518243
PheGenI	rs1057518243
Biobank	rs1057518243
1000 genomes	rs1057518243
hgdp	rs1057518243
ensembl	rs1057518243
geneview	rs1057518243
scholar	rs1057518243
google	rs1057518243
pharmgkb	rs1057518243
gwascentral	rs1057518243
openSNP	rs1057518243
23andMe	rs1057518243
SNPshot	rs1057518243
SNPdbe	rs1057518243
MSV3d	rs1057518243
GWAS Ctlg	rs1057518243

Max Magnitude

0

ClinVar
Risk	rs1057518243(T;T)
Alt	rs1057518243(T;T)
Reference	Rs1057518243(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	SCN1A
CLNDBN	not provided
Reversed	1
HGVS	NC_000002.11:g.166904273C>A
CLNSRC
CLNACC	RCV000413989.1,