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rs121912939

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912939(C;C)
Make rs121912939(C;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position45989617
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs121912939
ebirs121912939
HLIrs121912939
Exacrs121912939
Varsomers121912939
Maprs121912939
PheGenIrs121912939
hapmaprs121912939
1000 genomesrs121912939
hgdprs121912939
ensemblrs121912939
gopubmedrs121912939
geneviewrs121912939
scholarrs121912939
googlers121912939
pharmgkbrs121912939
gwascentralrs121912939
openSNPrs121912939
23andMers121912939
23andMe allrs121912939
SNP Nexus

SNPshotrs121912939
SNPdbers121912939
MSV3drs121912939
GWAS Ctlgrs121912939
Max Magnitude0
OMIM120220
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121912939(A,C;A,C)
Alt rs121912939(A,C;A,C)
Reference rs121912939(G;G)
Significance Pathogenic
Disease not provided Ullrich congenital muscular dystrophy Bethlem myopathy Ullrich congenital muscular dystrophy 1
Variation info
Gene COL6A1
CLNDBN not provided Ullrich congenital muscular dystrophy Bethlem myopathy Ullrich congenital muscular dystrophy 1, autosomal dominant
Reversed 0
HGVS NC_000021.8:g.47409531G>A; NC_000021.8:g.47409531G>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000079833.4, RCV000173747.1, RCV000173748.1, RCV000018721.30,