rs758432471

Orientation

plus

Stabilized

plus

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

Make rs758432471(C;T)

Make rs758432471(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

1806513

Gene

GNB1

is a	snp
is	mentioned by
dbSNP	rs758432471
dbSNP (classic)	rs758432471
ClinGen	rs758432471
ebi	rs758432471
HLI	rs758432471
Exac	rs758432471
Gnomad	rs758432471
Varsome	rs758432471
LitVar	rs758432471
Map	rs758432471
PheGenI	rs758432471
Biobank	rs758432471
1000 genomes	rs758432471
hgdp	rs758432471
ensembl	rs758432471
geneview	rs758432471
scholar	rs758432471
google	rs758432471
pharmgkb	rs758432471
gwascentral	rs758432471
openSNP	rs758432471
23andMe	rs758432471
SNPshot	rs758432471
SNPdbe	rs758432471
MSV3d	rs758432471
GWAS Ctlg	rs758432471

Max Magnitude

0

ClinVar
Risk	rs758432471(T;T)
Alt	rs758432471(T;T)
Reference	Rs758432471(C;C)
Significance	Pathogenic
Disease	Global developmental delay Muscular hypotonia
Variation	info
Gene	GNB1
CLNDBN	Global developmental delay Muscular hypotonia
Reversed	0
HGVS	NC_000001.10:g.1737952C>T
CLNSRC
CLNACC	RCV000210256.1,