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rs121908188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908188(A;A)
Make rs121908188(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position25809753
GeneSEPN1
is asnp
is mentioned by
dbSNPrs121908188
ebirs121908188
HLIrs121908188
Exacrs121908188
Varsomers121908188
Maprs121908188
PheGenIrs121908188
hapmaprs121908188
1000 genomesrs121908188
hgdprs121908188
ensemblrs121908188
gopubmedrs121908188
geneviewrs121908188
scholarrs121908188
googlers121908188
pharmgkbrs121908188
gwascentralrs121908188
openSNPrs121908188
23andMers121908188
23andMe allrs121908188
SNP Nexus

SNPshotrs121908188
SNPdbers121908188
MSV3drs121908188
GWAS Ctlgrs121908188
Max Magnitude0
OMIM606210
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908188(A;A)
Alt rs121908188(A;A)
Reference rs121908188(G;G)
Significance Pathogenic
Disease Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion not provided
Variation info
Gene SEPN1
CLNDBN Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion not provided
Reversed 0
HGVS NC_000001.10:g.26136244G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004753.7, RCV000004754.8, RCV000082020.3,


[PMID 16365872] SEPN1: associated with congenital fiber-type disproportion and insulin resistance.