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rs794727028

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727028(C;C)
Make rs794727028(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position45989752
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs794727028
ebirs794727028
HLIrs794727028
Exacrs794727028
Varsomers794727028
Maprs794727028
PheGenIrs794727028
hapmaprs794727028
1000 genomesrs794727028
hgdprs794727028
ensemblrs794727028
gopubmedrs794727028
geneviewrs794727028
scholarrs794727028
googlers794727028
pharmgkbrs794727028
gwascentralrs794727028
openSNPrs794727028
23andMers794727028
23andMe allrs794727028
SNP Nexus

SNPshotrs794727028
SNPdbers794727028
MSV3drs794727028
GWAS Ctlgrs794727028
Max Magnitude0
ClinVar
Risk rs794727028(C;C)
Alt rs794727028(C;C)
Reference rs794727028(G;G)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy
Variation info
Gene COL6A1
CLNDBN Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47409666G>C
CLNSRC
CLNACC RCV000174058.1,