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rs587783343

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783343(A;A)
Make rs587783343(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position127048595
GeneBIN1
is asnp
is mentioned by
dbSNPrs587783343
ebirs587783343
HLIrs587783343
Exacrs587783343
Varsomers587783343
Maprs587783343
PheGenIrs587783343
hapmaprs587783343
1000 genomesrs587783343
hgdprs587783343
ensemblrs587783343
gopubmedrs587783343
geneviewrs587783343
scholarrs587783343
googlers587783343
pharmgkbrs587783343
gwascentralrs587783343
openSNPrs587783343
23andMers587783343
23andMe allrs587783343
SNP Nexus

SNPshotrs587783343
SNPdbers587783343
MSV3drs587783343
GWAS Ctlgrs587783343
Max Magnitude0
ClinVar
Risk rs587783343(A;A)
Alt rs587783343(A;A)
Reference rs587783343(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.127806171C>T
CLNSRC
CLNACC RCV000145341.1,