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rs121912935

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912935(A;A)
Make rs121912935(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position45990792
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs121912935
ebirs121912935
HLIrs121912935
Exacrs121912935
Varsomers121912935
Maprs121912935
PheGenIrs121912935
hapmaprs121912935
1000 genomesrs121912935
hgdprs121912935
ensemblrs121912935
gopubmedrs121912935
geneviewrs121912935
scholarrs121912935
googlers121912935
pharmgkbrs121912935
gwascentralrs121912935
openSNPrs121912935
23andMers121912935
23andMe allrs121912935
SNP Nexus

SNPshotrs121912935
SNPdbers121912935
MSV3drs121912935
GWAS Ctlgrs121912935
Max Magnitude0
OMIM120220
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912935(A;A)
Alt rs121912935(A;A)
Reference rs121912935(G;G)
Significance Pathogenic
Disease Bethlem myopathy
Variation info
Gene COL6A1
CLNDBN Bethlem myopathy
Reversed 0
HGVS NC_000021.8:g.47410706G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018712.28,