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rs267606681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606681(A;A)
Make rs267606681(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position127068982
GeneBIN1
is asnp
is mentioned by
dbSNPrs267606681
ebirs267606681
HLIrs267606681
Exacrs267606681
Varsomers267606681
Maprs267606681
PheGenIrs267606681
hapmaprs267606681
1000 genomesrs267606681
hgdprs267606681
ensemblrs267606681
gopubmedrs267606681
geneviewrs267606681
scholarrs267606681
googlers267606681
pharmgkbrs267606681
gwascentralrs267606681
openSNPrs267606681
23andMers267606681
23andMe allrs267606681
SNP Nexus

SNPshotrs267606681
SNPdbers267606681
MSV3drs267606681
GWAS Ctlgrs267606681
Max Magnitude0
ClinVar
Risk rs267606681(A;A)
Alt rs267606681(A;A)
Reference rs267606681(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.127826558C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008798.2,