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rs121434555

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434555(G;G)
Make rs121434555(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position237367010
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs121434555
ebirs121434555
HLIrs121434555
Exacrs121434555
Varsomers121434555
Maprs121434555
PheGenIrs121434555
hapmaprs121434555
1000 genomesrs121434555
hgdprs121434555
ensemblrs121434555
gopubmedrs121434555
geneviewrs121434555
scholarrs121434555
googlers121434555
pharmgkbrs121434555
gwascentralrs121434555
openSNPrs121434555
23andMers121434555
23andMe allrs121434555
SNP Nexus

SNPshotrs121434555
SNPdbers121434555
MSV3drs121434555
GWAS Ctlgrs121434555
Max Magnitude0
OMIM120250
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121434555(G;G)
Alt rs121434555(G;G)
Reference rs121434555(T;T)
Significance Pathogenic
Disease Bethlem myopathy
Variation info
Gene COL6A3
CLNDBN Bethlem myopathy
Reversed 1
HGVS NC_000002.11:g.238275653A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018694.24,