Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434553

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434553(A;A)
Make rs121434553(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position237367151
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs121434553
ebirs121434553
HLIrs121434553
Exacrs121434553
Varsomers121434553
Maprs121434553
PheGenIrs121434553
hapmaprs121434553
1000 genomesrs121434553
hgdprs121434553
ensemblrs121434553
gopubmedrs121434553
geneviewrs121434553
scholarrs121434553
googlers121434553
pharmgkbrs121434553
gwascentralrs121434553
openSNPrs121434553
23andMers121434553
23andMe allrs121434553
SNP Nexus

SNPshotrs121434553
SNPdbers121434553
MSV3drs121434553
GWAS Ctlgrs121434553
Max Magnitude0
OMIM120250
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434553(A;A)
Alt rs121434553(A;A)
Reference rs121434553(G;G)
Significance Pathogenic
Disease Bethlem myopathy not provided
Variation info
Gene COL6A3
CLNDBN Bethlem myopathy not provided
Reversed 1
HGVS NC_000002.11:g.238275794C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018689.28, RCV000174101.1,