rs1057519549

Orientation

minus

Stabilized

minus

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

Make rs1057519549(C;T)

Make rs1057519549(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

26567655

Gene

GABRB3

is a	snp
is	mentioned by
dbSNP	rs1057519549
dbSNP (classic)	rs1057519549
ClinGen	rs1057519549
ebi	rs1057519549
HLI	rs1057519549
Exac	rs1057519549
Gnomad	rs1057519549
Varsome	rs1057519549
LitVar	rs1057519549
Map	rs1057519549
PheGenI	rs1057519549
Biobank	rs1057519549
1000 genomes	rs1057519549
hgdp	rs1057519549
ensembl	rs1057519549
geneview	rs1057519549
scholar	rs1057519549
google	rs1057519549
pharmgkb	rs1057519549
gwascentral	rs1057519549
openSNP	rs1057519549
23andMe	rs1057519549
SNPshot	rs1057519549
SNPdbe	rs1057519549
MSV3d	rs1057519549
GWAS Ctlg	rs1057519549

Max Magnitude

0

ClinVar
Risk	rs1057519549(T;T)
Alt	rs1057519549(T;T)
Reference	Rs1057519549(C;C)
Significance	Probable-Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	GABRB3
CLNDBN	Epileptic encephalopathy
Reversed	1
HGVS	NC_000015.9:g.26812802G>A
CLNSRC
CLNACC	RCV000416942.1,