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rs794727188

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727188(A;A)
Make rs794727188(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position237360131
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs794727188
ebirs794727188
HLIrs794727188
Exacrs794727188
Varsomers794727188
Maprs794727188
PheGenIrs794727188
hapmaprs794727188
1000 genomesrs794727188
hgdprs794727188
ensemblrs794727188
gopubmedrs794727188
geneviewrs794727188
scholarrs794727188
googlers794727188
pharmgkbrs794727188
gwascentralrs794727188
openSNPrs794727188
23andMers794727188
23andMe allrs794727188
SNP Nexus

SNPshotrs794727188
SNPdbers794727188
MSV3drs794727188
GWAS Ctlgrs794727188
Max Magnitude0
ClinVar
Risk rs794727188(A;A)
Alt rs794727188(A;A)
Reference rs794727188(G;G)
Significance Pathogenic
Disease Bethlem myopathy
Variation info
Gene COL6A3
CLNDBN Bethlem myopathy
Reversed 1
HGVS NC_000002.11:g.238268774C>T
CLNSRC
CLNACC RCV000175185.1,