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rs794727855

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727855(G;T)
Make rs794727855(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46116028
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs794727855
ebirs794727855
HLIrs794727855
Exacrs794727855
Varsomers794727855
Maprs794727855
PheGenIrs794727855
hapmaprs794727855
1000 genomesrs794727855
hgdprs794727855
ensemblrs794727855
gopubmedrs794727855
geneviewrs794727855
scholarrs794727855
googlers794727855
pharmgkbrs794727855
gwascentralrs794727855
openSNPrs794727855
23andMers794727855
23andMe allrs794727855
SNP Nexus

SNPshotrs794727855
SNPdbers794727855
MSV3drs794727855
GWAS Ctlgrs794727855
Max Magnitude0
ClinVar
Risk rs794727855(T;T)
Alt rs794727855(T;T)
Reference rs794727855(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.47535942G>T
CLNSRC
CLNACC RCV000179831.1, RCV000179832.1,