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rs794727061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727061(G;T)
Make rs794727061(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome21
Position46117883
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs794727061
dbSNP (classic)rs794727061
ClinGenrs794727061
ebirs794727061
HLIrs794727061
Exacrs794727061
Gnomadrs794727061
Varsomers794727061
LitVarrs794727061
Maprs794727061
PheGenIrs794727061
Biobankrs794727061
1000 genomesrs794727061
hgdprs794727061
ensemblrs794727061
geneviewrs794727061
scholarrs794727061
googlers794727061
pharmgkbrs794727061
gwascentralrs794727061
openSNPrs794727061
23andMers794727061
SNPshotrs794727061
SNPdbers794727061
MSV3drs794727061
GWAS Ctlgrs794727061
Max Magnitude0
ClinVar
Risk rs794727061(T;T)
Alt rs794727061(T;T)
Reference Rs794727061(G;G)
Significance Probable-Pathogenic
Disease not provided Bethlem myopathy 1
Variation info
Gene COL6A2
CLNDBN not provided Bethlem myopathy 1
Reversed 0
HGVS NC_000021.8:g.47537797G>T
CLNSRC
CLNACC RCV000174305.1, RCV000392800.1,