rs797044849

Orientation

minus

Stabilized

minus

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

Make rs797044849(C;C)

Make rs797044849(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

13567164

Gene

GRIN2B

is a	snp
is	mentioned by
dbSNP	rs797044849
dbSNP (classic)	rs797044849
ClinGen	rs797044849
ebi	rs797044849
HLI	rs797044849
Exac	rs797044849
Gnomad	rs797044849
Varsome	rs797044849
LitVar	rs797044849
Map	rs797044849
PheGenI	rs797044849
Biobank	rs797044849
1000 genomes	rs797044849
hgdp	rs797044849
ensembl	rs797044849
geneview	rs797044849
scholar	rs797044849
google	rs797044849
pharmgkb	rs797044849
gwascentral	rs797044849
openSNP	rs797044849
23andMe	rs797044849
SNPshot	rs797044849
SNPdbe	rs797044849
MSV3d	rs797044849
GWAS Ctlg	rs797044849

Max Magnitude

0

ClinVar
Risk	rs797044849(C;C) rs797044849(T;T)
Alt	rs797044849(C;C) rs797044849(T;T)
Reference	Rs797044849(G;G)
Significance	Pathogenic
Disease	not provided Inborn genetic diseases Epileptic encephalopathy Mental retardation
Variation	info
Gene	GRIN2B
CLNDBN	not provided Inborn genetic diseases Epileptic encephalopathy, early infantile, 27 Mental retardation, autosomal dominant 6
Reversed	1
HGVS	NC_000012.11:g.13720098C>A; NC_000012.11:g.13720098C>G
CLNSRC
CLNACC	RCV000217079.2, RCV000190648.1, RCV000235569.2, RCV000464558.1,