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rs121909273

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909273(G;T)
Make rs121909273(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position127076686
GeneBIN1
is asnp
is mentioned by
dbSNPrs121909273
ebirs121909273
HLIrs121909273
Exacrs121909273
Varsomers121909273
Maprs121909273
PheGenIrs121909273
hapmaprs121909273
1000 genomesrs121909273
hgdprs121909273
ensemblrs121909273
gopubmedrs121909273
geneviewrs121909273
scholarrs121909273
googlers121909273
pharmgkbrs121909273
gwascentralrs121909273
openSNPrs121909273
23andMers121909273
23andMe allrs121909273
SNP Nexus

SNPshotrs121909273
SNPdbers121909273
MSV3drs121909273
GWAS Ctlgrs121909273
Max Magnitude0
OMIM601248
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909273(T;T)
Alt rs121909273(T;T)
Reference rs121909273(G;G)
Significance Pathogenic
Disease Autosomal recessive centronuclear myopathy
Variation info
Gene BIN1
CLNDBN Autosomal recessive centronuclear myopathy
Reversed 1
HGVS NC_000002.11:g.127834262C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008795.2,