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rs587783820

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783820(A;G)
Make rs587783820(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150614703
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783820
ebirs587783820
HLIrs587783820
Exacrs587783820
Varsomers587783820
Maprs587783820
PheGenIrs587783820
hapmaprs587783820
1000 genomesrs587783820
hgdprs587783820
ensemblrs587783820
gopubmedrs587783820
geneviewrs587783820
scholarrs587783820
googlers587783820
pharmgkbrs587783820
gwascentralrs587783820
openSNPrs587783820
23andMers587783820
23andMe allrs587783820
SNP Nexus

SNPshotrs587783820
SNPdbers587783820
MSV3drs587783820
GWAS Ctlgrs587783820
Max Magnitude0
ClinVar
Risk rs587783820(G;G)
Alt rs587783820(G;G)
Reference rs587783820(A;A)
Significance Probable-Pathogenic
Disease Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149783176A>G
CLNSRC
CLNACC RCV000146445.1,