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rs200783529

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200783529(G;G)
Make rs200783529(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position110668985
GeneMUSK
is asnp
is mentioned by
dbSNPrs200783529
ebirs200783529
HLIrs200783529
Exacrs200783529
Varsomers200783529
Maprs200783529
PheGenIrs200783529
hapmaprs200783529
1000 genomesrs200783529
hgdprs200783529
ensemblrs200783529
gopubmedrs200783529
geneviewrs200783529
scholarrs200783529
googlers200783529
pharmgkbrs200783529
gwascentralrs200783529
openSNPrs200783529
23andMers200783529
23andMe allrs200783529
SNP Nexus

SNPshotrs200783529
SNPdbers200783529
MSV3drs200783529
GWAS Ctlgrs200783529
Max Magnitude0
ClinVar
Risk rs200783529(G;G)
Alt rs200783529(G;G)
Reference rs200783529(T;T)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene MUSK
CLNDBN Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Reversed 0
HGVS NC_000009.11:g.113431265T>G
CLNSRC
CLNACC RCV000193437.1,