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rs375737188

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs375737188(G;T)
Make rs375737188(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position110695418
GeneMUSK
is asnp
is mentioned by
dbSNPrs375737188
ebirs375737188
HLIrs375737188
Exacrs375737188
Varsomers375737188
Maprs375737188
PheGenIrs375737188
hapmaprs375737188
1000 genomesrs375737188
hgdprs375737188
ensemblrs375737188
gopubmedrs375737188
geneviewrs375737188
scholarrs375737188
googlers375737188
pharmgkbrs375737188
gwascentralrs375737188
openSNPrs375737188
23andMers375737188
23andMe allrs375737188
SNP Nexus

SNPshotrs375737188
SNPdbers375737188
MSV3drs375737188
GWAS Ctlgrs375737188
Max Magnitude0
ClinVar
Risk rs375737188(A,T;A,T)
Alt rs375737188(A,T;A,T)
Reference rs375737188(G;G)
Significance Probable-Pathogenic
Disease Myasthenic syndrome
Variation info
Gene MUSK
CLNDBN Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Reversed 0
HGVS NC_000009.11:g.113457698G>T
CLNSRC
CLNACC RCV000192613.1,