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rs869312821

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312821(A;G)
Make rs869312821(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position1806515
GeneGNB1
is asnp
is mentioned by
dbSNPrs869312821
ebirs869312821
HLIrs869312821
Exacrs869312821
Varsomers869312821
Maprs869312821
PheGenIrs869312821
hapmaprs869312821
1000 genomesrs869312821
hgdprs869312821
ensemblrs869312821
gopubmedrs869312821
geneviewrs869312821
scholarrs869312821
googlers869312821
pharmgkbrs869312821
gwascentralrs869312821
openSNPrs869312821
23andMers869312821
23andMe allrs869312821
SNP Nexus

SNPshotrs869312821
SNPdbers869312821
MSV3drs869312821
GWAS Ctlgrs869312821
Max Magnitude0
ClinVar
Risk rs869312821(G;G)
Alt rs869312821(G;G)
Reference rs869312821(A;A)
Significance Pathogenic
Disease Global developmental delay Infantile muscular hypotonia Intellectual disability Muscular hypotonia Mental retardation Acute lymphoid leukemia
Variation info
Gene GNB1
CLNDBN Global developmental delay Infantile muscular hypotonia Intellectual disability Muscular hypotonia Mental retardation, autosomal dominant 42 Acute lymphoid leukemia
Reversed 1
HGVS NC_000001.10:g.1737954T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000210265.1, RCV000225254.2, RCV000225357.2,