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rs121912934

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912934(G;T)
Make rs121912934(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position45998399
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs121912934
ebirs121912934
HLIrs121912934
Exacrs121912934
Varsomers121912934
Maprs121912934
PheGenIrs121912934
hapmaprs121912934
1000 genomesrs121912934
hgdprs121912934
ensemblrs121912934
gopubmedrs121912934
geneviewrs121912934
scholarrs121912934
googlers121912934
pharmgkbrs121912934
gwascentralrs121912934
openSNPrs121912934
23andMers121912934
23andMe allrs121912934
SNP Nexus

SNPshotrs121912934
SNPdbers121912934
MSV3drs121912934
GWAS Ctlgrs121912934
Max Magnitude0
OMIM120220
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912934(T;T)
Alt rs121912934(T;T)
Reference rs121912934(G;G)
Significance Pathogenic
Disease Bethlem myopathy
Variation info
Gene COL6A1
CLNDBN Bethlem myopathy
Reversed 0
HGVS NC_000021.8:g.47418313G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018709.26,