rs886039817

Orientation

plus

Stabilized

plus

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

Make rs886039817(C;C)

Make rs886039817(C;T)

Reference

GRCh38.p7 38.3/149

Chromosome

4

Position

47403613

Gene

GABRB1

is a	snp
is	mentioned by
dbSNP	rs886039817
dbSNP (classic)	rs886039817
ClinGen	rs886039817
ebi	rs886039817
HLI	rs886039817
Exac	rs886039817
Gnomad	rs886039817
Varsome	rs886039817
LitVar	rs886039817
Map	rs886039817
PheGenI	rs886039817
Biobank	rs886039817
1000 genomes	rs886039817
hgdp	rs886039817
ensembl	rs886039817
geneview	rs886039817
scholar	rs886039817
google	rs886039817
pharmgkb	rs886039817
gwascentral	rs886039817
openSNP	rs886039817
23andMe	rs886039817
SNPshot	rs886039817
SNPdbe	rs886039817
MSV3d	rs886039817
GWAS Ctlg	rs886039817

Max Magnitude

0

ClinVar
Risk	rs886039817(C;C)
Alt	rs886039817(C;C)
Reference	Rs886039817(T;T)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	GABRB1
CLNDBN	Epileptic encephalopathy, early infantile, 45
Reversed	0
HGVS	NC_000004.11:g.47405630T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000256298.1,