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rs121909275

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909275(A;T)
Make rs121909275(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position127048585
GeneBIN1
is asnp
is mentioned by
dbSNPrs121909275
ebirs121909275
HLIrs121909275
Exacrs121909275
Varsomers121909275
Maprs121909275
PheGenIrs121909275
hapmaprs121909275
1000 genomesrs121909275
hgdprs121909275
ensemblrs121909275
gopubmedrs121909275
geneviewrs121909275
scholarrs121909275
googlers121909275
pharmgkbrs121909275
gwascentralrs121909275
openSNPrs121909275
23andMers121909275
23andMe allrs121909275
SNP Nexus

SNPshotrs121909275
SNPdbers121909275
MSV3drs121909275
GWAS Ctlgrs121909275
Max Magnitude0
OMIM601248
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909275(T;T)
Alt rs121909275(T;T)
Reference rs121909275(A;A)
Significance Pathogenic
Disease Autosomal recessive centronuclear myopathy
Variation info
Gene BIN1
CLNDBN Autosomal recessive centronuclear myopathy
Reversed 1
HGVS NC_000002.11:g.127806161T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008797.2,