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

rs587783816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783816(C;C)
Make rs587783816(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150614617
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783816
dbSNP (old)rs587783816
ClinGenrs587783816
ebirs587783816
HLIrs587783816
Exacrs587783816
Gnomadrs587783816
Varsomers587783816
Maprs587783816
PheGenIrs587783816
Biobankrs587783816
1000 genomesrs587783816
hgdprs587783816
ensemblrs587783816
gopubmedrs587783816
geneviewrs587783816
scholarrs587783816
googlers587783816
pharmgkbrs587783816
gwascentralrs587783816
openSNPrs587783816
23andMers587783816
23andMe allrs587783816
SNP Nexus

SNPshotrs587783816
SNPdbers587783816
MSV3drs587783816
GWAS Ctlgrs587783816
Max Magnitude0
ClinVar
Risk rs587783816(C;C)
Alt rs587783816(C;C)
Reference Rs587783816(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.149783090T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000146441.1,