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rs121434554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434554(C;T)
Make rs121434554(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position237381419
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs121434554
ebirs121434554
HLIrs121434554
Exacrs121434554
Varsomers121434554
Maprs121434554
PheGenIrs121434554
hapmaprs121434554
1000 genomesrs121434554
hgdprs121434554
ensemblrs121434554
gopubmedrs121434554
geneviewrs121434554
scholarrs121434554
googlers121434554
pharmgkbrs121434554
gwascentralrs121434554
openSNPrs121434554
23andMers121434554
23andMe allrs121434554
SNP Nexus

SNPshotrs121434554
SNPdbers121434554
MSV3drs121434554
GWAS Ctlgrs121434554
Max Magnitude0
OMIM120250
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434554(T;T)
Alt rs121434554(T;T)
Reference rs121434554(C;C)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy
Variation info
Gene COL6A3
CLNDBN Ullrich congenital muscular dystrophy
Reversed 1
HGVS NC_000002.11:g.238290062G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018691.28,