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rs119103248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103248(A;A)
Make rs119103248(A;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position152140027
GeneSYNE1
is asnp
is mentioned by
dbSNPrs119103248
ebirs119103248
HLIrs119103248
Exacrs119103248
Varsomers119103248
Maprs119103248
PheGenIrs119103248
hapmaprs119103248
1000 genomesrs119103248
hgdprs119103248
ensemblrs119103248
gopubmedrs119103248
geneviewrs119103248
scholarrs119103248
googlers119103248
pharmgkbrs119103248
gwascentralrs119103248
openSNPrs119103248
23andMers119103248
23andMe allrs119103248
SNP Nexus

SNPshotrs119103248
SNPdbers119103248
MSV3drs119103248
GWAS Ctlgrs119103248
Max Magnitude0
OMIM608441
Desc
Variant0010
Relatedalso
ClinVar
Risk rs119103248(A;A)
Alt rs119103248(A;A)
Reference rs119103248(G;G)
Significance Pathogenic
Disease Emery-Dreifuss muscular dystrophy 4 not provided
Variation info
Gene SYNE1
CLNDBN Emery-Dreifuss muscular dystrophy 4, autosomal dominant not provided
Reversed 1
HGVS NC_000006.11:g.152461162C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002424.2, RCV000174817.1,