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rs797044621

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044621(-;CGGCCGGGCC)
Make rs797044621(CGGCCGGGCC;CGGCCGGGCC)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position25800252
GeneSEPN1
is asnp
is mentioned by
dbSNPrs797044621
ClinGenrs797044621
ebirs797044621
HLIrs797044621
Exacrs797044621
Varsomers797044621
Maprs797044621
PheGenIrs797044621
hapmaprs797044621
1000 genomesrs797044621
hgdprs797044621
ensemblrs797044621
gopubmedrs797044621
geneviewrs797044621
scholarrs797044621
googlers797044621
pharmgkbrs797044621
gwascentralrs797044621
openSNPrs797044621
23andMers797044621
23andMe allrs797044621
SNP Nexus

SNPshotrs797044621
SNPdbers797044621
MSV3drs797044621
GWAS Ctlgrs797044621
Max Magnitude0
ClinVar
Risk rs797044621(GGCCGGGCCC;GGCCGGGCCC)
Alt rs797044621(GGCCGGGCCC;GGCCGGGCCC)
Reference Rs797044621(-;-)
Significance Pathogenic
Disease Eichsfeld type congenital muscular dystrophy
Variation info
Gene SELENON
CLNDBN Eichsfeld type congenital muscular dystrophy
Reversed 0
HGVS NC_000001.10:g.26126734_26126743dupCGGCCGGGCC
CLNSRC
CLNACC RCV000173501.1,