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rs121912938

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912938(A;A)
Make rs121912938(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position45989129
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs121912938
ebirs121912938
HLIrs121912938
Exacrs121912938
Varsomers121912938
Maprs121912938
PheGenIrs121912938
hapmaprs121912938
1000 genomesrs121912938
hgdprs121912938
ensemblrs121912938
gopubmedrs121912938
geneviewrs121912938
scholarrs121912938
googlers121912938
pharmgkbrs121912938
gwascentralrs121912938
openSNPrs121912938
23andMers121912938
23andMe allrs121912938
SNP Nexus

SNPshotrs121912938
SNPdbers121912938
MSV3drs121912938
GWAS Ctlgrs121912938
Max Magnitude0
OMIM120220
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121912938(A;A)
Alt rs121912938(A;A)
Reference rs121912938(G;G)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy 1 not provided Bethlem myopathy Ullrich congenital muscular dystrophy
Variation info
Gene COL6A1
CLNDBN Ullrich congenital muscular dystrophy 1, autosomal dominant not provided Bethlem myopathy Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47409043G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000018720.30, RCV000079828.4, RCV000180573.1, RCV000180574.1,