rs1057518252

Orientation

minus

Stabilized

minus

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

Make rs1057518252(C;C)

Make rs1057518252(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

165991993

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs1057518252
dbSNP (classic)	rs1057518252
ClinGen	rs1057518252
ebi	rs1057518252
HLI	rs1057518252
Exac	rs1057518252
Gnomad	rs1057518252
Varsome	rs1057518252
LitVar	rs1057518252
Map	rs1057518252
PheGenI	rs1057518252
Biobank	rs1057518252
1000 genomes	rs1057518252
hgdp	rs1057518252
ensembl	rs1057518252
geneview	rs1057518252
scholar	rs1057518252
google	rs1057518252
pharmgkb	rs1057518252
gwascentral	rs1057518252
openSNP	rs1057518252
23andMe	rs1057518252
SNPshot	rs1057518252
SNPdbe	rs1057518252
MSV3d	rs1057518252
GWAS Ctlg	rs1057518252

Max Magnitude

0

ClinVar
Risk	rs1057518252(C;C)
Alt	rs1057518252(C;C)
Reference	Rs1057518252(T;T)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	not provided
Reversed	1
HGVS	NC_000002.11:g.166848503A>G
CLNSRC
CLNACC	RCV000413245.1,