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rs746438011

From SNPedia

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Geno Mag Summary
(A;A) 0 common in clinvar
Make rs746438011(A;T)
Make rs746438011(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position152430672
GeneSYNE1
is asnp
is mentioned by
dbSNPrs746438011
ebirs746438011
HLIrs746438011
Exacrs746438011
Varsomers746438011
Maprs746438011
PheGenIrs746438011
hapmaprs746438011
1000 genomesrs746438011
hgdprs746438011
ensemblrs746438011
gopubmedrs746438011
geneviewrs746438011
scholarrs746438011
googlers746438011
pharmgkbrs746438011
gwascentralrs746438011
openSNPrs746438011
23andMers746438011
23andMe allrs746438011
SNP Nexus

SNPshotrs746438011
SNPdbers746438011
MSV3drs746438011
GWAS Ctlgrs746438011
Max Magnitude0
ClinVar
Risk rs746438011(T;T)
Alt rs746438011(T;T)
Reference rs746438011(A;A)
Significance Probable-Pathogenic
Disease Emery-Dreifuss muscular dystrophy 4
Variation info
Gene SYNE1
CLNDBN Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Reversed 0
HGVS NC_000006.11:g.152751807A>T
CLNSRC
CLNACC RCV000190464.1,