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rs794727808

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794727808(C;C)
Make rs794727808(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position25809152
GeneSEPN1
is asnp
is mentioned by
dbSNPrs794727808
ebirs794727808
HLIrs794727808
Exacrs794727808
Varsomers794727808
Maprs794727808
PheGenIrs794727808
hapmaprs794727808
1000 genomesrs794727808
hgdprs794727808
ensemblrs794727808
gopubmedrs794727808
geneviewrs794727808
scholarrs794727808
googlers794727808
pharmgkbrs794727808
gwascentralrs794727808
openSNPrs794727808
23andMers794727808
23andMe allrs794727808
SNP Nexus

SNPshotrs794727808
SNPdbers794727808
MSV3drs794727808
GWAS Ctlgrs794727808
Max Magnitude0
ClinVar
Risk rs794727808(C;C)
Alt rs794727808(C;C)
Reference rs794727808(T;T)
Significance Pathogenic
Disease Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy
Variation info
Gene SEPN1
CLNDBN Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy
Reversed 0
HGVS NC_000001.10:g.26135643T>C
CLNSRC
CLNACC RCV000179510.1, RCV000179511.1,