rs748404250

Orientation

plus

Stabilized

plus

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

Make rs748404250(C;C)

Make rs748404250(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

66177389

Gene

CRH

is a	snp
is	mentioned by
dbSNP	rs748404250
dbSNP (classic)	rs748404250
ClinGen	rs748404250
ebi	rs748404250
HLI	rs748404250
Exac	rs748404250
Gnomad	rs748404250
Varsome	rs748404250
LitVar	rs748404250
Map	rs748404250
PheGenI	rs748404250
Biobank	rs748404250
1000 genomes	rs748404250
hgdp	rs748404250
ensembl	rs748404250
geneview	rs748404250
scholar	rs748404250
google	rs748404250
pharmgkb	rs748404250
gwascentral	rs748404250
openSNP	rs748404250
23andMe	rs748404250
SNPshot	rs748404250
SNPdbe	rs748404250
MSV3d	rs748404250
GWAS Ctlg	rs748404250

Max Magnitude

0

ClinVar
Risk	rs748404250(C;C)
Alt	rs748404250(C;C)
Reference	Rs748404250(G;G)
Significance	Pathogenic
Disease	not provided Autosomal dominant nocturnal frontal lobe epilepsy
Variation	info
Gene	CRH
CLNDBN	not provided Autosomal dominant nocturnal frontal lobe epilepsy
Reversed	0
HGVS	NC_000008.10:g.67089624G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000172993.3, RCV000192059.1,