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rs121908185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908185(A;A)
Make rs121908185(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position25813890
GeneSEPN1
is asnp
is mentioned by
dbSNPrs121908185
ebirs121908185
HLIrs121908185
Exacrs121908185
Varsomers121908185
Maprs121908185
PheGenIrs121908185
hapmaprs121908185
1000 genomesrs121908185
hgdprs121908185
ensemblrs121908185
gopubmedrs121908185
geneviewrs121908185
scholarrs121908185
googlers121908185
pharmgkbrs121908185
gwascentralrs121908185
openSNPrs121908185
23andMers121908185
23andMe allrs121908185
SNP Nexus

SNPshotrs121908185
SNPdbers121908185
MSV3drs121908185
GWAS Ctlgrs121908185
Max Magnitude0
OMIM606210
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908185(A;A)
Alt rs121908185(A;A)
Reference rs121908185(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.26140381G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004749.4,