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rs587783756

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783756(A;A)
Make rs587783756(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150657903
GeneMTM1
is asnp
is mentioned by
dbSNPrs587783756
ebirs587783756
HLIrs587783756
Exacrs587783756
Varsomers587783756
Maprs587783756
PheGenIrs587783756
hapmaprs587783756
1000 genomesrs587783756
hgdprs587783756
ensemblrs587783756
gopubmedrs587783756
geneviewrs587783756
scholarrs587783756
googlers587783756
pharmgkbrs587783756
gwascentralrs587783756
openSNPrs587783756
23andMers587783756
23andMe allrs587783756
SNP Nexus

SNPshotrs587783756
SNPdbers587783756
MSV3drs587783756
GWAS Ctlgrs587783756
Max Magnitude0
ClinVar
Risk rs587783756(A;A)
Alt rs587783756(A;A)
Reference rs587783756(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.149826376G>A
CLNSRC
CLNACC RCV000146377.1,