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

rs587783819

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783819(A;T)
Make rs587783819(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150614697
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783819
ebirs587783819
HLIrs587783819
Exacrs587783819
Varsomers587783819
Maprs587783819
PheGenIrs587783819
hapmaprs587783819
1000 genomesrs587783819
hgdprs587783819
ensemblrs587783819
gopubmedrs587783819
geneviewrs587783819
scholarrs587783819
googlers587783819
pharmgkbrs587783819
gwascentralrs587783819
openSNPrs587783819
23andMers587783819
23andMe allrs587783819
SNP Nexus

SNPshotrs587783819
SNPdbers587783819
MSV3drs587783819
GWAS Ctlgrs587783819
Max Magnitude0
ClinVar
Risk rs587783819(T;T)
Alt rs587783819(T;T)
Reference rs587783819(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.149783170A>T
CLNSRC
CLNACC RCV000146444.1,