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rs587783818

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783818(A;G)
Make rs587783818(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150614658
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783818
ebirs587783818
HLIrs587783818
Exacrs587783818
Varsomers587783818
Maprs587783818
PheGenIrs587783818
hapmaprs587783818
1000 genomesrs587783818
hgdprs587783818
ensemblrs587783818
gopubmedrs587783818
geneviewrs587783818
scholarrs587783818
googlers587783818
pharmgkbrs587783818
gwascentralrs587783818
openSNPrs587783818
23andMers587783818
23andMe allrs587783818
SNP Nexus

SNPshotrs587783818
SNPdbers587783818
MSV3drs587783818
GWAS Ctlgrs587783818
Max Magnitude0
ClinVar
Risk rs587783818(G;G)
Alt rs587783818(G;G)
Reference rs587783818(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.149783131A>G
CLNSRC
CLNACC RCV000146443.1,