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

rs587783801

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783801(C;C)
Make rs587783801(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150663460
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783801
ebirs587783801
HLIrs587783801
Exacrs587783801
Varsomers587783801
Maprs587783801
PheGenIrs587783801
hapmaprs587783801
1000 genomesrs587783801
hgdprs587783801
ensemblrs587783801
gopubmedrs587783801
geneviewrs587783801
scholarrs587783801
googlers587783801
pharmgkbrs587783801
gwascentralrs587783801
openSNPrs587783801
23andMers587783801
23andMe allrs587783801
SNP Nexus

SNPshotrs587783801
SNPdbers587783801
MSV3drs587783801
GWAS Ctlgrs587783801
Max Magnitude0
ClinVar
Risk rs587783801(C;C)
Alt rs587783801(C;C)
Reference rs587783801(T;T)
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.149831933T>C
CLNSRC
CLNACC RCV000146425.1,