rs1057519550

Orientation

minus

Stabilized

minus

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

Make rs1057519550(A;C)

Make rs1057519550(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

26621403

Gene

GABRB3

is a	snp
is	mentioned by
dbSNP	rs1057519550
dbSNP (classic)	rs1057519550
ClinGen	rs1057519550
ebi	rs1057519550
HLI	rs1057519550
Exac	rs1057519550
Gnomad	rs1057519550
Varsome	rs1057519550
LitVar	rs1057519550
Map	rs1057519550
PheGenI	rs1057519550
Biobank	rs1057519550
1000 genomes	rs1057519550
hgdp	rs1057519550
ensembl	rs1057519550
geneview	rs1057519550
scholar	rs1057519550
google	rs1057519550
pharmgkb	rs1057519550
gwascentral	rs1057519550
openSNP	rs1057519550
23andMe	rs1057519550
SNPshot	rs1057519550
SNPdbe	rs1057519550
MSV3d	rs1057519550
GWAS Ctlg	rs1057519550

Max Magnitude

0

ClinVar
Risk	rs1057519550(C;C)
Alt	rs1057519550(C;C)
Reference	Rs1057519550(A;A)
Significance	Probable-Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	GABRB3
CLNDBN	Epileptic encephalopathy
Reversed	1
HGVS	NC_000015.9:g.26866550T>G
CLNSRC
CLNACC	RCV000416972.1,