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rs397515450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515450(C;T)
Make rs397515450(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position110800558
GeneMUSK
is asnp
is mentioned by
dbSNPrs397515450
ebirs397515450
HLIrs397515450
Exacrs397515450
Varsomers397515450
Maprs397515450
PheGenIrs397515450
hapmaprs397515450
1000 genomesrs397515450
hgdprs397515450
ensemblrs397515450
gopubmedrs397515450
geneviewrs397515450
scholarrs397515450
googlers397515450
pharmgkbrs397515450
gwascentralrs397515450
openSNPrs397515450
23andMers397515450
23andMe allrs397515450
SNP Nexus

SNPshotrs397515450
SNPdbers397515450
MSV3drs397515450
GWAS Ctlgrs397515450
Max Magnitude0
ClinVar
Risk rs397515450(T;T)
Alt rs397515450(T;T)
Reference rs397515450(C;C)
Significance 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.113562838C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054418.3,