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rs1057518966

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518966(A;A)
Make rs1057518966(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position110800743
GeneMUSK
is asnp
is mentioned by
dbSNPrs1057518966
dbSNP (old)rs1057518966
ClinGenrs1057518966
ebirs1057518966
HLIrs1057518966
Exacrs1057518966
Gnomadrs1057518966
Varsomers1057518966
Maprs1057518966
PheGenIrs1057518966
Biobankrs1057518966
1000 genomesrs1057518966
hgdprs1057518966
ensemblrs1057518966
gopubmedrs1057518966
geneviewrs1057518966
scholarrs1057518966
googlers1057518966
pharmgkbrs1057518966
gwascentralrs1057518966
openSNPrs1057518966
23andMers1057518966
23andMe allrs1057518966
SNPshotrs1057518966
SNPdbers1057518966
MSV3drs1057518966
GWAS Ctlgrs1057518966
Max Magnitude0
ClinVar
Risk rs1057518966(A;A)
Alt rs1057518966(A;A)
Reference Rs1057518966(G;G)
Significance Probable-Pathogenic
Disease Bilateral ptosis Delayed gross motor development Respiratory insufficiency Stridor
Variation info
Gene MUSK
CLNDBN Bilateral ptosis Delayed gross motor development Respiratory insufficiency Stridor
Reversed 0
HGVS NC_000009.11:g.113563023G>A
CLNSRC
CLNACC RCV000415334.1,