Have questions? Visit https://www.reddit.com/r/SNPedia

rs587783849

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783849(A;A)
Make rs587783849(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150641419
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783849
ebirs587783849
HLIrs587783849
Exacrs587783849
Varsomers587783849
Maprs587783849
PheGenIrs587783849
hapmaprs587783849
1000 genomesrs587783849
hgdprs587783849
ensemblrs587783849
gopubmedrs587783849
geneviewrs587783849
scholarrs587783849
googlers587783849
pharmgkbrs587783849
gwascentralrs587783849
openSNPrs587783849
23andMers587783849
23andMe allrs587783849
SNP Nexus

SNPshotrs587783849
SNPdbers587783849
MSV3drs587783849
GWAS Ctlgrs587783849
Max Magnitude0
ClinVar
Risk rs587783849(A;A)
Alt rs587783849(A;A)
Reference rs587783849(G;G)
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.149809892G>A
CLNSRC
CLNACC RCV000146475.1,