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rs758432471

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs758432471(C;T)
Make rs758432471(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position1806513
GeneGNB1
is asnp
is mentioned by
dbSNPrs758432471
ebirs758432471
HLIrs758432471
Exacrs758432471
Varsomers758432471
Maprs758432471
PheGenIrs758432471
hapmaprs758432471
1000 genomesrs758432471
hgdprs758432471
ensemblrs758432471
gopubmedrs758432471
geneviewrs758432471
scholarrs758432471
googlers758432471
pharmgkbrs758432471
gwascentralrs758432471
openSNPrs758432471
23andMers758432471
23andMe allrs758432471
SNP Nexus

SNPshotrs758432471
SNPdbers758432471
MSV3drs758432471
GWAS Ctlgrs758432471
Max Magnitude0
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,