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rs797045477

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045477(A;G)
Make rs797045477(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position45990771
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs797045477
ebirs797045477
HLIrs797045477
Exacrs797045477
Varsomers797045477
Maprs797045477
PheGenIrs797045477
hapmaprs797045477
1000 genomesrs797045477
hgdprs797045477
ensemblrs797045477
gopubmedrs797045477
geneviewrs797045477
scholarrs797045477
googlers797045477
pharmgkbrs797045477
gwascentralrs797045477
openSNPrs797045477
23andMers797045477
23andMe allrs797045477
SNP Nexus

SNPshotrs797045477
SNPdbers797045477
MSV3drs797045477
GWAS Ctlgrs797045477
Max Magnitude0
ClinVar
Risk rs797045477(G;G)
Alt rs797045477(G;G)
Reference rs797045477(A;A)
Significance Pathogenic
Disease Myopathy
Variation info
Gene COL6A1
CLNDBN Myopathy
Reversed 0
HGVS NC_000021.8:g.47410685A>G
CLNSRC
CLNACC RCV000194464.1,