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rs794727206

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727206(G;T)
Make rs794727206(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position237359378
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs794727206
ebirs794727206
HLIrs794727206
Exacrs794727206
Varsomers794727206
Maprs794727206
PheGenIrs794727206
hapmaprs794727206
1000 genomesrs794727206
hgdprs794727206
ensemblrs794727206
gopubmedrs794727206
geneviewrs794727206
scholarrs794727206
googlers794727206
pharmgkbrs794727206
gwascentralrs794727206
openSNPrs794727206
23andMers794727206
23andMe allrs794727206
SNP Nexus

SNPshotrs794727206
SNPdbers794727206
MSV3drs794727206
GWAS Ctlgrs794727206
Max Magnitude0
ClinVar
Risk rs794727206(T;T)
Alt rs794727206(T;T)
Reference rs794727206(G;G)
Significance Pathogenic
Disease Bethlem myopathy
Variation info
Gene COL6A3
CLNDBN Bethlem myopathy
Reversed 1
HGVS NC_000002.11:g.238268021C>A
CLNSRC
CLNACC RCV000175313.1,