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rs794729205

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794729205(-;-)
Make rs794729205(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position237350167
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs794729205
ebirs794729205
HLIrs794729205
Exacrs794729205
Varsomers794729205
Maprs794729205
PheGenIrs794729205
hapmaprs794729205
1000 genomesrs794729205
hgdprs794729205
ensemblrs794729205
gopubmedrs794729205
geneviewrs794729205
scholarrs794729205
googlers794729205
pharmgkbrs794729205
gwascentralrs794729205
openSNPrs794729205
23andMers794729205
23andMe allrs794729205
SNP Nexus

SNPshotrs794729205
SNPdbers794729205
MSV3drs794729205
GWAS Ctlgrs794729205
Max Magnitude0
ClinVar
Risk rs794729205(;)
Alt rs794729205(;)
Reference rs794729205(C;C)
Significance Probable-Pathogenic
Disease Bethlem myopathy
Variation info
Gene COL6A3
CLNDBN Bethlem myopathy
Reversed 1
HGVS NC_000002.11:g.238258810delG
CLNSRC
CLNACC RCV000184025.2,