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rs863223335

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863223335(-;A)
Make rs863223335(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position110668944
GeneMUSK
is asnp
is mentioned by
dbSNPrs863223335
ClinGenrs863223335
ebirs863223335
HLIrs863223335
Exacrs863223335
Varsomers863223335
Maprs863223335
PheGenIrs863223335
hapmaprs863223335
1000 genomesrs863223335
hgdprs863223335
ensemblrs863223335
gopubmedrs863223335
geneviewrs863223335
scholarrs863223335
googlers863223335
pharmgkbrs863223335
gwascentralrs863223335
openSNPrs863223335
23andMers863223335
23andMe allrs863223335
SNP Nexus

SNPshotrs863223335
SNPdbers863223335
MSV3drs863223335
GWAS Ctlgrs863223335
Max Magnitude0
ClinVar
Risk rs863223335(A;A)
Alt rs863223335(A;A)
Reference Rs863223335(;)
Significance Pathogenic
Disease Pena-Shokeir syndrome type I
Variation info
Gene MUSK
CLNDBN Pena-Shokeir syndrome type I
Reversed 0
HGVS NC_000009.11:g.113431224dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000170587.3,