rs869312825

Orientation

minus

Stabilized

minus

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

Make rs869312825(A;G)

Make rs869312825(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

1804548

Gene

GNB1

is a	snp
is	mentioned by
dbSNP	rs869312825
dbSNP (classic)	rs869312825
ClinGen	rs869312825
ebi	rs869312825
HLI	rs869312825
Exac	rs869312825
Gnomad	rs869312825
Varsome	rs869312825
LitVar	rs869312825
Map	rs869312825
PheGenI	rs869312825
Biobank	rs869312825
1000 genomes	rs869312825
hgdp	rs869312825
ensembl	rs869312825
geneview	rs869312825
scholar	rs869312825
google	rs869312825
pharmgkb	rs869312825
gwascentral	rs869312825
openSNP	rs869312825
23andMe	rs869312825
SNPshot	rs869312825
SNPdbe	rs869312825
MSV3d	rs869312825
GWAS Ctlg	rs869312825

Max Magnitude

0

ClinVar
Risk	rs869312825(G;G)
Alt	rs869312825(G;G)
Reference	Rs869312825(A;A)
Significance	Pathogenic
Disease	Developmental regression EEG with generalized epileptiform discharges Expressive language delay Focal seizures with impairment of consciousness or awareness Generalized tonic-clonic seizures Global developmental delay Intellectual disability Multifocal epileptiform discharges Muscular hypotonia Seizures Mental retardation not provided
Variation	info
Gene	GNB1
CLNDBN	Developmental regression EEG with generalized epileptiform discharges Expressive language delay Focal seizures with impairment of consciousness or awareness Generalized tonic-clonic seizures Global developmental delay Intellectual disability Multifocal epileptiform discharges Muscular hypotonia Seizures Mental retardation, autosomal dominant 42 not provided
Reversed	1
HGVS	NC_000001.10:g.1735987T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210283.1, RCV000225171.2, RCV000480671.1,