Have questions? Visit https://www.reddit.com/r/SNPedia

rs794727976

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727976(G;T)
Make rs794727976(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position25811694
GeneSEPN1
is asnp
is mentioned by
dbSNPrs794727976
ebirs794727976
HLIrs794727976
Exacrs794727976
Varsomers794727976
Maprs794727976
PheGenIrs794727976
hapmaprs794727976
1000 genomesrs794727976
hgdprs794727976
ensemblrs794727976
gopubmedrs794727976
geneviewrs794727976
scholarrs794727976
googlers794727976
pharmgkbrs794727976
gwascentralrs794727976
openSNPrs794727976
23andMers794727976
23andMe allrs794727976
SNP Nexus

SNPshotrs794727976
SNPdbers794727976
MSV3drs794727976
GWAS Ctlgrs794727976
Max Magnitude0
ClinVar
Risk rs794727976(T;T)
Alt rs794727976(T;T)
Reference rs794727976(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.26138185G>T
CLNSRC
CLNACC RCV000180670.1,