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

rs587776597

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776597(A;A)
Make rs587776597(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position25812790
GeneSEPN1
is asnp
is mentioned by
dbSNPrs587776597
ebirs587776597
HLIrs587776597
Exacrs587776597
Varsomers587776597
Maprs587776597
PheGenIrs587776597
hapmaprs587776597
1000 genomesrs587776597
hgdprs587776597
ensemblrs587776597
gopubmedrs587776597
geneviewrs587776597
scholarrs587776597
googlers587776597
pharmgkbrs587776597
gwascentralrs587776597
openSNPrs587776597
23andMers587776597
23andMe allrs587776597
SNP Nexus

SNPshotrs587776597
SNPdbers587776597
MSV3drs587776597
GWAS Ctlgrs587776597
Max Magnitude0
ClinVar
Risk rs587776597(A;A)
Alt rs587776597(A;A)
Reference rs587776597(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.26139281G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004747.3,