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rs587783835

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783835(A;G)
Make rs587783835(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641290
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783835
ebirs587783835
HLIrs587783835
Exacrs587783835
Varsomers587783835
Maprs587783835
PheGenIrs587783835
hapmaprs587783835
1000 genomesrs587783835
hgdprs587783835
ensemblrs587783835
gopubmedrs587783835
geneviewrs587783835
scholarrs587783835
googlers587783835
pharmgkbrs587783835
gwascentralrs587783835
openSNPrs587783835
23andMers587783835
23andMe allrs587783835
SNP Nexus

SNPshotrs587783835
SNPdbers587783835
MSV3drs587783835
GWAS Ctlgrs587783835
Max Magnitude0
ClinVar
Risk rs587783835(G;G)
Alt rs587783835(G;G)
Reference rs587783835(A;A)
Significance Pathogenic
Disease Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149809763A>G
CLNSRC
CLNACC RCV000146460.1,