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rs119103247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103247(G;T)
Make rs119103247(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position152141290
GeneSYNE1
is asnp
is mentioned by
dbSNPrs119103247
ebirs119103247
HLIrs119103247
Exacrs119103247
Varsomers119103247
Maprs119103247
PheGenIrs119103247
hapmaprs119103247
1000 genomesrs119103247
hgdprs119103247
ensemblrs119103247
gopubmedrs119103247
geneviewrs119103247
scholarrs119103247
googlers119103247
pharmgkbrs119103247
gwascentralrs119103247
openSNPrs119103247
23andMers119103247
23andMe allrs119103247
SNP Nexus

SNPshotrs119103247
SNPdbers119103247
MSV3drs119103247
GWAS Ctlgrs119103247
Max Magnitude0
OMIM608441
Desc
Variant0009
Relatedalso
ClinVar
Risk rs119103247(A,T;A,T)
Alt rs119103247(A,T;A,T)
Reference rs119103247(G;G)
Significance Pathogenic
Disease Emery-Dreifuss muscular dystrophy 4
Variation info
Gene SYNE1
CLNDBN Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Reversed 1
HGVS NC_000006.11:g.152462425C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002423.1,