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rs121908182

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908182(A;A)
Make rs121908182(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position25809096
GeneSEPN1
is asnp
is mentioned by
dbSNPrs121908182
ebirs121908182
HLIrs121908182
Exacrs121908182
Varsomers121908182
Maprs121908182
PheGenIrs121908182
hapmaprs121908182
1000 genomesrs121908182
hgdprs121908182
ensemblrs121908182
gopubmedrs121908182
geneviewrs121908182
scholarrs121908182
googlers121908182
pharmgkbrs121908182
gwascentralrs121908182
openSNPrs121908182
23andMers121908182
23andMe allrs121908182
SNP Nexus

SNPshotrs121908182
SNPdbers121908182
MSV3drs121908182
GWAS Ctlgrs121908182
Max Magnitude0
OMIM606210
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908182(A;A)
Alt rs121908182(A;A)
Reference rs121908182(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.26135587G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004746.3,