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rs121908187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908187(G;G)
Make rs121908187(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position25812789
GeneSEPN1
is asnp
is mentioned by
dbSNPrs121908187
ebirs121908187
HLIrs121908187
Exacrs121908187
Varsomers121908187
Maprs121908187
PheGenIrs121908187
hapmaprs121908187
1000 genomesrs121908187
hgdprs121908187
ensemblrs121908187
gopubmedrs121908187
geneviewrs121908187
scholarrs121908187
googlers121908187
pharmgkbrs121908187
gwascentralrs121908187
openSNPrs121908187
23andMers121908187
23andMe allrs121908187
SNP Nexus

SNPshotrs121908187
SNPdbers121908187
MSV3drs121908187
GWAS Ctlgrs121908187
Max Magnitude0
OMIM606210
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908187(G;G)
Alt rs121908187(G;G)
Reference rs121908187(T;T)
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.26139280T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004752.2,