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rs121908183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGA;TGA) 0 common in clinvar
Make rs121908183(-;-)
Make rs121908183(-;TGA)
ReferenceGRCh38 38.1/141
Chromosome1
Position25812789
GeneSEPN1
is asnp
is mentioned by
dbSNPrs121908183
ebirs121908183
HLIrs121908183
Exacrs121908183
Varsomers121908183
Maprs121908183
PheGenIrs121908183
hapmaprs121908183
1000 genomesrs121908183
hgdprs121908183
ensemblrs121908183
gopubmedrs121908183
geneviewrs121908183
scholarrs121908183
googlers121908183
pharmgkbrs121908183
gwascentralrs121908183
openSNPrs121908183
23andMers121908183
23andMe allrs121908183
SNP Nexus

SNPshotrs121908183
SNPdbers121908183
MSV3drs121908183
GWAS Ctlgrs121908183
Max Magnitude0
OMIM606210
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908183(;)
Alt rs121908183(;)
Reference rs121908183(TGA;TGA)
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.26139280_26139282delTGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004747.1,