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rs751889864

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs751889864(C;C)
Make rs751889864(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position110785664
GeneMUSK
is asnp
is mentioned by
dbSNPrs751889864
ebirs751889864
HLIrs751889864
Exacrs751889864
Varsomers751889864
Maprs751889864
PheGenIrs751889864
hapmaprs751889864
1000 genomesrs751889864
hgdprs751889864
ensemblrs751889864
gopubmedrs751889864
geneviewrs751889864
scholarrs751889864
googlers751889864
pharmgkbrs751889864
gwascentralrs751889864
openSNPrs751889864
23andMers751889864
23andMe allrs751889864
SNP Nexus

SNPshotrs751889864
SNPdbers751889864
MSV3drs751889864
GWAS Ctlgrs751889864
Max Magnitude0
ClinVar
Risk rs751889864(A,C;A,C)
Alt rs751889864(A,C;A,C)
Reference rs751889864(T;T)
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.113547944T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000170588.3,