rs749240316

Orientation

plus

Stabilized

plus

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

Make rs749240316(A;A)

Make rs749240316(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

3

Position

11026281

Gene

SLC6A1

is a	snp
is	mentioned by
dbSNP	rs749240316
dbSNP (classic)	rs749240316
ClinGen	rs749240316
ebi	rs749240316
HLI	rs749240316
Exac	rs749240316
Gnomad	rs749240316
Varsome	rs749240316
LitVar	rs749240316
Map	rs749240316
PheGenI	rs749240316
Biobank	rs749240316
1000 genomes	rs749240316
hgdp	rs749240316
ensembl	rs749240316
geneview	rs749240316
scholar	rs749240316
google	rs749240316
pharmgkb	rs749240316
gwascentral	rs749240316
openSNP	rs749240316
23andMe	rs749240316
SNPshot	rs749240316
SNPdbe	rs749240316
MSV3d	rs749240316
GWAS Ctlg	rs749240316

Max Magnitude

0

ClinVar
Risk	rs749240316(A;A) rs749240316(C;C)
Alt	rs749240316(A;A) rs749240316(C;C)
Reference	Rs749240316(G;G)
Significance	Pathogenic
Disease	Myoclonic-atonic epilepsy
Variation	info
Gene	SLC6A1
CLNDBN	Myoclonic-atonic epilepsy
Reversed	0
HGVS	NC_000003.11:g.11067967G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000172996.2,