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rs794727788

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727788(A;A)
Make rs794727788(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46115882
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs794727788
ebirs794727788
HLIrs794727788
Exacrs794727788
Varsomers794727788
Maprs794727788
PheGenIrs794727788
hapmaprs794727788
1000 genomesrs794727788
hgdprs794727788
ensemblrs794727788
gopubmedrs794727788
geneviewrs794727788
scholarrs794727788
googlers794727788
pharmgkbrs794727788
gwascentralrs794727788
openSNPrs794727788
23andMers794727788
23andMe allrs794727788
SNP Nexus

SNPshotrs794727788
SNPdbers794727788
MSV3drs794727788
GWAS Ctlgrs794727788
Max Magnitude0
ClinVar
Risk rs794727788(A;A)
Alt rs794727788(A;A)
Reference rs794727788(G;G)
Significance Pathogenic
Disease Bethlem myopathy Ullrich congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN Bethlem myopathy Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47535796G>A
CLNSRC
CLNACC RCV000179390.1, RCV000179391.1,