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rs121908184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908184(A;G)
Make rs121908184(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position25800231
GeneSEPN1
is asnp
is mentioned by
dbSNPrs121908184
ebirs121908184
HLIrs121908184
Exacrs121908184
Varsomers121908184
Maprs121908184
PheGenIrs121908184
hapmaprs121908184
1000 genomesrs121908184
hgdprs121908184
ensemblrs121908184
gopubmedrs121908184
geneviewrs121908184
scholarrs121908184
googlers121908184
pharmgkbrs121908184
gwascentralrs121908184
openSNPrs121908184
23andMers121908184
23andMe allrs121908184
SNP Nexus

SNPshotrs121908184
SNPdbers121908184
MSV3drs121908184
GWAS Ctlgrs121908184
Max Magnitude0
OMIM606210
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908184(G;G)
Alt rs121908184(G;G)
Reference rs121908184(A;A)
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.26126722A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004748.2,