rs672601376

Orientation

minus

Stabilized

minus

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

Make rs672601376(G;G)

Make rs672601376(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

13608760

Gene	GRIN2B, LOC105369668

is a	snp
is	mentioned by
dbSNP	rs672601376
dbSNP (classic)	rs672601376
ClinGen	rs672601376
ebi	rs672601376
HLI	rs672601376
Exac	rs672601376
Gnomad	rs672601376
Varsome	rs672601376
LitVar	rs672601376
Map	rs672601376
PheGenI	rs672601376
Biobank	rs672601376
1000 genomes	rs672601376
hgdp	rs672601376
ensembl	rs672601376
geneview	rs672601376
scholar	rs672601376
google	rs672601376
pharmgkb	rs672601376
gwascentral	rs672601376
openSNP	rs672601376
23andMe	rs672601376
SNPshot	rs672601376
SNPdbe	rs672601376
MSV3d	rs672601376
GWAS Ctlg	rs672601376

Max Magnitude

0

ClinVar
Risk	rs672601376(G;G)
Alt	rs672601376(G;G)
Reference	Rs672601376(T;T)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	GRIN2B
CLNDBN	Epileptic encephalopathy, early infantile, 27
Reversed	1
HGVS	NC_000012.11:g.13761694A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000149503.2,