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rs119103246

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103246(A;A)
Make rs119103246(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position152151987
GeneSYNE1
is asnp
is mentioned by
dbSNPrs119103246
ebirs119103246
HLIrs119103246
Exacrs119103246
Varsomers119103246
Maprs119103246
PheGenIrs119103246
hapmaprs119103246
1000 genomesrs119103246
hgdprs119103246
ensemblrs119103246
gopubmedrs119103246
geneviewrs119103246
scholarrs119103246
googlers119103246
pharmgkbrs119103246
gwascentralrs119103246
openSNPrs119103246
23andMers119103246
23andMe allrs119103246
SNP Nexus

SNPshotrs119103246
SNPdbers119103246
MSV3drs119103246
GWAS Ctlgrs119103246
Max Magnitude0
OMIM608441
Desc
Variant0008
Relatedalso
ClinVar
Risk rs119103246(A;A)
Alt rs119103246(A;A)
Reference rs119103246(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.152473122C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002422.3,