rs1057518112

Orientation

minus

Stabilized

minus

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

Make rs1057518112(A;A)

Make rs1057518112(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

166037781

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs1057518112
dbSNP (classic)	rs1057518112
ClinGen	rs1057518112
ebi	rs1057518112
HLI	rs1057518112
Exac	rs1057518112
Gnomad	rs1057518112
Varsome	rs1057518112
LitVar	rs1057518112
Map	rs1057518112
PheGenI	rs1057518112
Biobank	rs1057518112
1000 genomes	rs1057518112
hgdp	rs1057518112
ensembl	rs1057518112
geneview	rs1057518112
scholar	rs1057518112
google	rs1057518112
pharmgkb	rs1057518112
gwascentral	rs1057518112
openSNP	rs1057518112
23andMe	rs1057518112
SNPshot	rs1057518112
SNPdbe	rs1057518112
MSV3d	rs1057518112
GWAS Ctlg	rs1057518112

Max Magnitude

0

ClinVar
Risk	rs1057518112(A;A)
Alt	rs1057518112(A;A)
Reference	Rs1057518112(C;C)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	SCN1A
CLNDBN	not provided
Reversed	1
HGVS	NC_000002.11:g.166894291G>T
CLNSRC
CLNACC	RCV000413641.1,