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rs756877019

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs756877019(C;C)
Make rs756877019(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position110800760
GeneMUSK
is asnp
is mentioned by
dbSNPrs756877019
ebirs756877019
HLIrs756877019
Exacrs756877019
Varsomers756877019
Maprs756877019
PheGenIrs756877019
hapmaprs756877019
1000 genomesrs756877019
hgdprs756877019
ensemblrs756877019
gopubmedrs756877019
geneviewrs756877019
scholarrs756877019
googlers756877019
pharmgkbrs756877019
gwascentralrs756877019
openSNPrs756877019
23andMers756877019
23andMe allrs756877019
SNP Nexus

SNPshotrs756877019
SNPdbers756877019
MSV3drs756877019
GWAS Ctlgrs756877019
Max Magnitude0
ClinVar
Risk rs756877019(C;C)
Alt rs756877019(C;C)
Reference rs756877019(G;G)
Significance Probable-Pathogenic
Disease Myasthenic syndrome
Variation info
Gene MUSK
CLNDBN Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
Reversed 0
HGVS NC_000009.11:g.113563040G>C
CLNSRC
CLNACC RCV000202616.1,