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rs121908186

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908186(C;C)
Make rs121908186(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position25812763
GeneSEPN1
is asnp
is mentioned by
dbSNPrs121908186
ebirs121908186
HLIrs121908186
Exacrs121908186
Varsomers121908186
Maprs121908186
PheGenIrs121908186
hapmaprs121908186
1000 genomesrs121908186
hgdprs121908186
ensemblrs121908186
gopubmedrs121908186
geneviewrs121908186
scholarrs121908186
googlers121908186
pharmgkbrs121908186
gwascentralrs121908186
openSNPrs121908186
23andMers121908186
23andMe allrs121908186
SNP Nexus

SNPshotrs121908186
SNPdbers121908186
MSV3drs121908186
GWAS Ctlgrs121908186
Max Magnitude0
OMIM606210
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908186(C;C)
Alt rs121908186(C;C)
Reference rs121908186(G;G)
Significance Pathogenic
Disease Eichsfeld type congenital muscular dystrophy
Variation info
Gene SEPN1
CLNDBN Eichsfeld type congenital muscular dystrophy
Reversed 0
HGVS NC_000001.10:g.26139254G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004750.3,