Have questions? Visit https://www.reddit.com/r/SNPedia

rs794729206

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794729206(A;A)
Make rs794729206(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position237361836
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs794729206
ebirs794729206
HLIrs794729206
Exacrs794729206
Varsomers794729206
Maprs794729206
PheGenIrs794729206
hapmaprs794729206
1000 genomesrs794729206
hgdprs794729206
ensemblrs794729206
gopubmedrs794729206
geneviewrs794729206
scholarrs794729206
googlers794729206
pharmgkbrs794729206
gwascentralrs794729206
openSNPrs794729206
23andMers794729206
23andMe allrs794729206
SNP Nexus

SNPshotrs794729206
SNPdbers794729206
MSV3drs794729206
GWAS Ctlgrs794729206
Max Magnitude0
ClinVar
Risk rs794729206(A;A)
Alt rs794729206(A;A)
Reference rs794729206(G;G)
Significance Probable-Pathogenic
Disease Bethlem myopathy
Variation info
Gene COL6A3
CLNDBN Bethlem myopathy
Reversed 1
HGVS NC_000002.11:g.238270479C>T
CLNSRC
CLNACC RCV000184025.2,