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rs121909274

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909274(A;A)
Make rs121909274(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position127068992
GeneBIN1
is asnp
is mentioned by
dbSNPrs121909274
ebirs121909274
HLIrs121909274
Exacrs121909274
Varsomers121909274
Maprs121909274
PheGenIrs121909274
hapmaprs121909274
1000 genomesrs121909274
hgdprs121909274
ensemblrs121909274
gopubmedrs121909274
geneviewrs121909274
scholarrs121909274
googlers121909274
pharmgkbrs121909274
gwascentralrs121909274
openSNPrs121909274
23andMers121909274
23andMe allrs121909274
SNP Nexus

SNPshotrs121909274
SNPdbers121909274
MSV3drs121909274
GWAS Ctlgrs121909274
Max Magnitude0
OMIM601248
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909274(A;A)
Alt rs121909274(A;A)
Reference rs121909274(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.127826568C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008796.2,