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rs794727715

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727715(A;A)
Make rs794727715(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46114074
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs794727715
ebirs794727715
HLIrs794727715
Exacrs794727715
Varsomers794727715
Maprs794727715
PheGenIrs794727715
hapmaprs794727715
1000 genomesrs794727715
hgdprs794727715
ensemblrs794727715
gopubmedrs794727715
geneviewrs794727715
scholarrs794727715
googlers794727715
pharmgkbrs794727715
gwascentralrs794727715
openSNPrs794727715
23andMers794727715
23andMe allrs794727715
SNP Nexus

SNPshotrs794727715
SNPdbers794727715
MSV3drs794727715
GWAS Ctlgrs794727715
Max Magnitude0
ClinVar
Risk rs794727715(A;A)
Alt rs794727715(A;A)
Reference rs794727715(G;G)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy Bethlem myopathy
Variation info
Gene COL6A2
CLNDBN Ullrich congenital muscular dystrophy Bethlem myopathy
Reversed 0
HGVS NC_000021.8:g.47533988G>A
CLNSRC
CLNACC RCV000178850.1, RCV000178851.1,