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rs794727060

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794727060(C;C)
Make rs794727060(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position45990286
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs794727060
ebirs794727060
HLIrs794727060
Exacrs794727060
Varsomers794727060
Maprs794727060
PheGenIrs794727060
hapmaprs794727060
1000 genomesrs794727060
hgdprs794727060
ensemblrs794727060
gopubmedrs794727060
geneviewrs794727060
scholarrs794727060
googlers794727060
pharmgkbrs794727060
gwascentralrs794727060
openSNPrs794727060
23andMers794727060
23andMe allrs794727060
SNP Nexus

SNPshotrs794727060
SNPdbers794727060
MSV3drs794727060
GWAS Ctlgrs794727060
Max Magnitude0
ClinVar
Risk rs794727060(C;C)
Alt rs794727060(C;C)
Reference rs794727060(T;T)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy Bethlem myopathy
Variation info
Gene COL6A1
CLNDBN Ullrich congenital muscular dystrophy Bethlem myopathy
Reversed 0
HGVS NC_000021.8:g.47410200T>C
CLNSRC
CLNACC RCV000174302.1, RCV000174303.1,