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rs797045478

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045478(A;A)
Make rs797045478(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46116045
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs797045478
ebirs797045478
HLIrs797045478
Exacrs797045478
Varsomers797045478
Maprs797045478
PheGenIrs797045478
hapmaprs797045478
1000 genomesrs797045478
hgdprs797045478
ensemblrs797045478
gopubmedrs797045478
geneviewrs797045478
scholarrs797045478
googlers797045478
pharmgkbrs797045478
gwascentralrs797045478
openSNPrs797045478
23andMers797045478
23andMe allrs797045478
SNP Nexus

SNPshotrs797045478
SNPdbers797045478
MSV3drs797045478
GWAS Ctlgrs797045478
Max Magnitude0
ClinVar
Risk rs797045478(A;A)
Alt rs797045478(A;A)
Reference rs797045478(G;G)
Significance Probable-Pathogenic
Disease Myopathy
Variation info
Gene COL6A2
CLNDBN Myopathy
Reversed 0
HGVS NC_000021.8:g.47535959G>A
CLNSRC
CLNACC RCV000193638.1,