rs869312824

Orientation

minus

Stabilized

minus

Make rs869312824(C;C)

Make rs869312824(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

1804565

Gene

GNB1

is a	snp
is	mentioned by
dbSNP	rs869312824
dbSNP (classic)	rs869312824
ClinGen	rs869312824
ebi	rs869312824
HLI	rs869312824
Exac	rs869312824
Gnomad	rs869312824
Varsome	rs869312824
LitVar	rs869312824
Map	rs869312824
PheGenI	rs869312824
Biobank	rs869312824
1000 genomes	rs869312824
hgdp	rs869312824
ensembl	rs869312824
geneview	rs869312824
scholar	rs869312824
google	rs869312824
pharmgkb	rs869312824
gwascentral	rs869312824
openSNP	rs869312824
23andMe	rs869312824
SNPshot	rs869312824
SNPdbe	rs869312824
MSV3d	rs869312824
GWAS Ctlg	rs869312824

Max Magnitude

0

ClinVar
Risk	rs869312824(C;C)
Alt	rs869312824(C;C)
Reference	Rs869312824(T;T)
Significance	Pathogenic
Disease	Cortical visual impairment Expressive language delay Failure to thrive Feeding difficulties Global developmental delay Growth delay Inability to walk Intellectual disability Limb hypertonia Multifocal epileptiform discharges Muscular hypotonia Nystagmus Seizures Strabismus
Variation	info
Gene	GNB1
CLNDBN	Cortical visual impairment Expressive language delay Failure to thrive Feeding difficulties Global developmental delay Growth delay Inability to walk Intellectual disability Limb hypertonia Multifocal epileptiform discharges Muscular hypotonia Nystagmus Seizures Strabismus
Reversed	1
HGVS	NC_000001.10:g.1736004A>G
CLNSRC
CLNACC	RCV000210270.1,